Materiały źródłowe

• #1 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] Optimal care for patients with rare metabolic disorders can be achieved only through a joint effort. […] Disorders of amino acid metabolism include, between others, homocystinuria, Hartnup disease, phenylketonuria and tyrosinemia. […] This group encompasses many metabolic disorders which are identifiable through standard metabolic assessments, such as amino acids and organic acids analysis, and are often responsive to dietary interventions.

• #2 Inherited metabolic disorders | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/inherited-metabolic-disorders

  Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #3 About Inherited Metabolic Diseases – Cardiff and Vale University Health Board

  https://cavuhb.nhs.wales/our-services/all-wales-adult-inherited-metabolic-disease-service/information-for-patients/about-inherited-metabolic-diseases/

  Inherited metabolic disorders are rare genetic conditions that interfere with metabolism. There are over 500 inherited metabolic disorders. […] Most people with an inherited metabolic disorder have a defective gene that causes an enzyme deficiency. This means that abnormal chemical reactions in the body alter some of the normal metabolic processes. This can affect the building of vital materials, brain function, energy production and removal of waste and toxins. […] We offer investigation and management for a variety of inherited metabolic disorders including, but not limited to: Alkaptonuria (AKU), amino acid disorders, such as Phenylketonuria (PKU) and Tyrosinaemia, carbohydrate disorders, such as Galactosaemia, fatty acid oxidation defects, such as Medium chain acyl-CoA dehydrogenase deficiency (MCADD), glycogen storage disorders, low blood sugar (hypoglycaemia), lysosomal storage disorders such as Fabry, MPS and Pompe disease, mitochondrial disorders, organic acid disorders, such as Methylmalonic acidaemia (MMA), Porphyria, purine/pyrimidine disorders, urea cycle disorders, such as Citrullinaemia and Ornithine transcarbamylase (OTC), fish odour syndrome (Trimethylaminuria).

• #4 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  Inherited metabolic disorders are genetic conditions that result in metabolism problems. […] Each of these inherited metabolic disorders is individually very rare. However, when considered together, theyre not so uncommon. […] An inherited metabolic disorder messes up the works, disrupting the assembly line. The consequences can be very bad. […] These disorders affect the breakdown or synthesis of proteins, lipids and sugars essential for the normal function of our body, says Eva Morava, MD, PhD, the director of the Inherited Metabolic Diseases Program at the Icahn School of Medicine at Mount Sinai in New York City, NY. Untreated, these disorders can lead to multiorgan failure and death. […] Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition cant be corrected with the technology we have right now. Instead, treatments try to work around the problem with metabolism.

• #5 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] Optimal care for patients with rare metabolic disorders can be achieved only through a joint effort. […] Disorders of amino acid metabolism include, between others, homocystinuria, Hartnup disease, phenylketonuria and tyrosinemia. […] This group encompasses many metabolic disorders which are identifiable through standard metabolic assessments, such as amino acids and organic acids analysis, and are often responsive to dietary interventions.

• #6 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  Inherited metabolic disorders are genetic conditions that result in metabolism problems. […] Each of these inherited metabolic disorders is individually very rare. However, when considered together, theyre not so uncommon. […] An inherited metabolic disorder messes up the works, disrupting the assembly line. The consequences can be very bad. […] These disorders affect the breakdown or synthesis of proteins, lipids and sugars essential for the normal function of our body, says Eva Morava, MD, PhD, the director of the Inherited Metabolic Diseases Program at the Icahn School of Medicine at Mount Sinai in New York City, NY. Untreated, these disorders can lead to multiorgan failure and death. […] Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition cant be corrected with the technology we have right now. Instead, treatments try to work around the problem with metabolism.

• #7 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] Optimal care for patients with rare metabolic disorders can be achieved only through a joint effort. […] Disorders of amino acid metabolism include, between others, homocystinuria, Hartnup disease, phenylketonuria and tyrosinemia. […] This group encompasses many metabolic disorders which are identifiable through standard metabolic assessments, such as amino acids and organic acids analysis, and are often responsive to dietary interventions.

• #8 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Disorders of carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. […] These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. […] Disorders of lipid metabolism and transport encompass a wide range of conditions that affect the metabolism of various lipid types (fatty acids, sphingolipids, sterol lipids) and of lipoproteins, from the first stages of biosynthesis to their transport within the body. […] Disorders of cofactors and mineral metabolism encompass a wide range of conditions that affect the body’s ability to produce, absorb, or utilize essential vitamins, minerals, and cofactors. […] Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance. […] Endocrine metabolic disorders highlight how metabolic and hormonal systems are interconnected.

• #9 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Disorders of carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. […] These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. […] Disorders of lipid metabolism and transport encompass a wide range of conditions that affect the metabolism of various lipid types (fatty acids, sphingolipids, sterol lipids) and of lipoproteins, from the first stages of biosynthesis to their transport within the body. […] Disorders of cofactors and mineral metabolism encompass a wide range of conditions that affect the body’s ability to produce, absorb, or utilize essential vitamins, minerals, and cofactors. […] Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance. […] Endocrine metabolic disorders highlight how metabolic and hormonal systems are interconnected.

• #10 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Disorders of carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. […] These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. […] Disorders of lipid metabolism and transport encompass a wide range of conditions that affect the metabolism of various lipid types (fatty acids, sphingolipids, sterol lipids) and of lipoproteins, from the first stages of biosynthesis to their transport within the body. […] Disorders of cofactors and mineral metabolism encompass a wide range of conditions that affect the body’s ability to produce, absorb, or utilize essential vitamins, minerals, and cofactors. […] Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance. […] Endocrine metabolic disorders highlight how metabolic and hormonal systems are interconnected.

• #11 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Disorders of carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. […] These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. […] Disorders of lipid metabolism and transport encompass a wide range of conditions that affect the metabolism of various lipid types (fatty acids, sphingolipids, sterol lipids) and of lipoproteins, from the first stages of biosynthesis to their transport within the body. […] Disorders of cofactors and mineral metabolism encompass a wide range of conditions that affect the body’s ability to produce, absorb, or utilize essential vitamins, minerals, and cofactors. […] Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance. […] Endocrine metabolic disorders highlight how metabolic and hormonal systems are interconnected.

• #12 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  Recent innovations in medical technology have changed newborn screening programs in the United States. […] The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. […] It is important for primary care physicians to recognize the clinical signs of inborn errors of metabolism and to know when to pursue advanced laboratory testing or referral to a children’s subspecialty center. […] Screening tests must be timely and effective with a high predictive value. […] Earlier recognition of these inborn errors of metabolism has the potential to reduce morbidity and mortality rates in these infants. […] Infants with symptoms of acute or chronic encephalopathy usually require a focused but systematic evaluation by a children’s neurologist and appropriate testing.

• #13 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Many inherited metabolic disorders can be found during pregnancy, which enables you to plan your baby’s care before delivery and know what your baby will need after they are born. […] If a metabolic disorder is found, we customize a plan of care to maximize the best possible outcomes for you and your baby. […] Newborns with positive screening test results for these inherited metabolic disorders are referred to our Inherited Metabolic Disease Specialty Center for additional testing, clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed. […] Our metabolic disorders team takes a holistic approach to care that considers the entire patient, including his or her physical, emotional, and social factors. […] We strive to partner with patients and their parents in shared decision-making, empowering them with knowledge, support, and the most effective treatment options to address symptoms and improve their quality of life.

• #14 Inherited metabolic disorders – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/symptoms-causes/syc-20352590

  Inherited metabolic disorders care at Mayo Clinic […] If you have concerns about your child’s growth and development or your own health, talk to your doctor or other healthcare professional. […] The risk of an inherited metabolic disorder is higher if one or both parents have the gene change that can cause the condition. In some cases, future parents may decide to have carrier testing before pregnancy. This test can identify some gene changes in parents that may raise the risk that future children will have certain types of inherited metabolic disorders.

• #15 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  Recent innovations in medical technology have changed newborn screening programs in the United States. […] The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. […] It is important for primary care physicians to recognize the clinical signs of inborn errors of metabolism and to know when to pursue advanced laboratory testing or referral to a children’s subspecialty center. […] Screening tests must be timely and effective with a high predictive value. […] Earlier recognition of these inborn errors of metabolism has the potential to reduce morbidity and mortality rates in these infants. […] Infants with symptoms of acute or chronic encephalopathy usually require a focused but systematic evaluation by a children’s neurologist and appropriate testing.

• #16 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Many inherited metabolic disorders can be found during pregnancy, which enables you to plan your baby’s care before delivery and know what your baby will need after they are born. […] If a metabolic disorder is found, we customize a plan of care to maximize the best possible outcomes for you and your baby. […] Newborns with positive screening test results for these inherited metabolic disorders are referred to our Inherited Metabolic Disease Specialty Center for additional testing, clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed. […] Our metabolic disorders team takes a holistic approach to care that considers the entire patient, including his or her physical, emotional, and social factors. […] We strive to partner with patients and their parents in shared decision-making, empowering them with knowledge, support, and the most effective treatment options to address symptoms and improve their quality of life.

• #17 Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/metabolic-disorders

  We treat all types of metabolic disorders affecting the nervous system, including mitochondrial disease, glucose transporter deficiency, lysosomal storage diseases, congenital disorders of glycosylation (CDG), neurotransmitter deficiencies, and CoQ10 deficiency. Your child’s care may begin before he or she is even born, with expertise provided by our prenatal specialists. Treatment may include guidance by a dietitian with expertise in metabolic disorders or enzyme replacement therapy. Genetic counseling is available for family members. Inpatient, outpatient, and emergency care are available for all patients. […] NewYork-Presbyterian Morgan Stanley Children’s Hospital is a New York State-designated Inherited Metabolic Disease Specialty Center one of only a handful in the state and a Newborn Screening Center. Newborns with positive screening test results for inherited metabolic disorders are referred to our center for additional testing and clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed.

• #18 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  Recent innovations in medical technology have changed newborn screening programs in the United States. […] The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. […] It is important for primary care physicians to recognize the clinical signs of inborn errors of metabolism and to know when to pursue advanced laboratory testing or referral to a children’s subspecialty center. […] Screening tests must be timely and effective with a high predictive value. […] Earlier recognition of these inborn errors of metabolism has the potential to reduce morbidity and mortality rates in these infants. […] Infants with symptoms of acute or chronic encephalopathy usually require a focused but systematic evaluation by a children’s neurologist and appropriate testing.

• #19 Inherited metabolic disorders – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/diagnosis-treatment/drc-20561225

  Some inherited metabolic disorders may be diagnosed before birth. Others can be diagnosed by routine newborn screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder. […] Inherited metabolic disorders are rare and complex. Depending on the type and severity of the disorder and your or your child’s age, you may see several experts in inherited metabolic disorders. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed. […] Our caring team of Mayo Clinic experts can help you with your inherited metabolic disorders-related health concerns. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. Sometimes care begins with a stay in the hospital. For some types of inherited metabolic disorders, there are no treatments currently available.

• #20 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  Recent innovations in medical technology have changed newborn screening programs in the United States. […] The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. […] It is important for primary care physicians to recognize the clinical signs of inborn errors of metabolism and to know when to pursue advanced laboratory testing or referral to a children’s subspecialty center. […] Screening tests must be timely and effective with a high predictive value. […] Earlier recognition of these inborn errors of metabolism has the potential to reduce morbidity and mortality rates in these infants. […] Infants with symptoms of acute or chronic encephalopathy usually require a focused but systematic evaluation by a children’s neurologist and appropriate testing.

• #21 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  Recent innovations in medical technology have changed newborn screening programs in the United States. […] The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. […] It is important for primary care physicians to recognize the clinical signs of inborn errors of metabolism and to know when to pursue advanced laboratory testing or referral to a children’s subspecialty center. […] Screening tests must be timely and effective with a high predictive value. […] Earlier recognition of these inborn errors of metabolism has the potential to reduce morbidity and mortality rates in these infants. […] Infants with symptoms of acute or chronic encephalopathy usually require a focused but systematic evaluation by a children’s neurologist and appropriate testing.

• #22 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  The physician should attempt to make fundamental distinctions between primary-genetic and secondary-acquired causes of conditions that present as developmental delay or failure to thrive. […] Initial laboratory investigations for older children are the same as for infants. […] Often, empiric therapeutic measures are needed before a definitive diagnosis is available. […] Traditional therapies for metabolic diseases include dietary therapy such as protein restriction, avoidance of fasting, or cofactor supplements. […] Even when no effective therapy exists or when an infant dies from a metabolic disorder, the family still needs an accurate diagnosis for clarification, reassurance, genetic counseling, and potential prenatal screening.

• #23 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  The physician should attempt to make fundamental distinctions between primary-genetic and secondary-acquired causes of conditions that present as developmental delay or failure to thrive. […] Initial laboratory investigations for older children are the same as for infants. […] Often, empiric therapeutic measures are needed before a definitive diagnosis is available. […] Traditional therapies for metabolic diseases include dietary therapy such as protein restriction, avoidance of fasting, or cofactor supplements. […] Even when no effective therapy exists or when an infant dies from a metabolic disorder, the family still needs an accurate diagnosis for clarification, reassurance, genetic counseling, and potential prenatal screening.

• #24 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Your child’s healthcare team includes pediatric neurologists, genetics experts, registered dietitians, nurses, child life specialists, social workers, and any other professionals needed to provide care, all in one location. […] The care of patients with metabolic disorders can be complex. […] At the Children’s Hospital of New York, the pediatric neurology team takes a multidisciplinary approach that focuses on the whole child and offers them the best opportunity to enjoy a normal transition from childhood to adulthood. […] Children who have a lifelong need for specialized care, such as those with inherited metabolic disorders, are embraced by our care teams. […] Our teams work with children through their adolescence, teen years, and early adulthood to help them understand their responsibility for their health and achieve their personal goals at every stage.

• #25 Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0548-2

  Parents’ social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. […] Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD. […] Parents commonly reported that children required frequent health care interactions involving multiple providers from various disciplines. […] Most participants were highly satisfied with the care that their child received in the specialist metabolic clinic, with metabolic health care providers regarded as supportive, and dietitians in particular described as highly engaged with families. […] Although respondents expressed contentment with IMD-specific care, many participants reported negative experiences and dissatisfaction with non IMD-specific components of the health care system that were used frequently by their child. […] While these frustrations were often relayed as single anecdotal experiences, parents emphasized their importance as sources of stress that impacted quality of life.

• #26 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Your child’s healthcare team includes pediatric neurologists, genetics experts, registered dietitians, nurses, child life specialists, social workers, and any other professionals needed to provide care, all in one location. […] The care of patients with metabolic disorders can be complex. […] At the Children’s Hospital of New York, the pediatric neurology team takes a multidisciplinary approach that focuses on the whole child and offers them the best opportunity to enjoy a normal transition from childhood to adulthood. […] Children who have a lifelong need for specialized care, such as those with inherited metabolic disorders, are embraced by our care teams. […] Our teams work with children through their adolescence, teen years, and early adulthood to help them understand their responsibility for their health and achieve their personal goals at every stage.

• #27 Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/metabolic-disorders

  Inherited metabolic disorders are a group of genetic conditions, many of which affect the nervous system. If your child has one of these disorders, the inherited metabolic disorder specialists at NewYork-Presbyterian Morgan Stanley Children’s Hospital offer compassionate care and consummate expertise. Your child’s healthcare team includes pediatric neurologists, genetics experts, dietitians, nurses, child life specialists, and other professionals who provide comprehensive care, all in one location. We are dedicated to providing individualized treatment that enables children of all ages to reach their fullest potential and live their best lives. […] At NewYork-Presbyterian Morgan Stanley Children’s Hospital, we provide comprehensive care designed to diagnose, manage and counsel patients with inherited metabolic disorders and their families. For children with neuro-metabolic disorders, our experienced pediatric neurologists help these children and their parents have the opportunity to build healthy lives, improve their quality of life, and minimize the burden of their disease.

• #28 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Many inherited metabolic disorders can be found during pregnancy, which enables you to plan your baby’s care before delivery and know what your baby will need after they are born. […] If a metabolic disorder is found, we customize a plan of care to maximize the best possible outcomes for you and your baby. […] Newborns with positive screening test results for these inherited metabolic disorders are referred to our Inherited Metabolic Disease Specialty Center for additional testing, clinical follow-up, and care if the diagnosis of a metabolic disorder is confirmed. […] Our metabolic disorders team takes a holistic approach to care that considers the entire patient, including his or her physical, emotional, and social factors. […] We strive to partner with patients and their parents in shared decision-making, empowering them with knowledge, support, and the most effective treatment options to address symptoms and improve their quality of life.

• #29 Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8977775/

  More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. […] Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important.

• #30 Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8977775/

  More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. […] Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important.

• #31 Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8977775/

  As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patients and familys education, support for self-management, liaison with peer support groups and emotional/ psychological support. […] The vast majority of IMDs that may present with epilepsy or seizures are multisystem, life-long disorders where epilepsy or seizures is just one among many other symptoms. Multidisciplinary care involves all stages of management: diagnostics, acute and chronic treatments, and long-term integrated care for patients with complex needs. Not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers must be taken into account.

• #32 Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8977775/

  The goals of integrated, multidisciplinary care are to place patients and their families at the center of care services planning in order to fully respond to their needs, to address holistically not only health-related but also other (psychological, social, educational, vocational) issues, and to ensure high-quality, accessible and effective services. […] Care pathways for these diseases are highly complex and diverse due to several reasons: 1) Heterogeneity of IMDs that may present with epilepsy or seizures; 2) Diversity in health systems organization and available expertise; 3) Patient and family-related factors (eg, rural vs urban living place or willingness to engage into self-management). […] Comprehensive patient care includes not only healthcare services at different levels of the health system, but also other services to meet the complex needs of patients and their families, including psychological, social, educational and vocational issues, all of which pose significant challenges for care coordination. […] The greatest burden of care for IMDs that involve epilepsy or seizures always falls on the shoulders of patients and/or families, therefore, each care pathway must include empowerment that must be family-centered.

• #33 Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey | springermedizin.de

  https://www.springermedizin.de/family-experiences-with-care-for-children-with-inherited-metabol/24127716

  Provider communication with the family, a key principle of family-centered care, was considered essential to satisfaction with care by the vast majority of participants across all settings, as was provider attitudes. Appropriate treatment, provider knowledge, and coordination were considered essential by most participants visiting settings with physician-led care (metabolic clinic, hospitalizations, emergency department). […] Family-centered care must, however, be tailored to specific settings. The settings where the largest proportions of participants reported a negative experience were hospital inpatient units and the emergency department. […] Our results highlight this as a strength of the metabolic clinic, which presents as a group of providers familiar to and trusted by caregivers. The metabolic clinics familiarity with patient needs may also make it well placed to address some of the issues at non-IMD-specific settings that caregivers identified as contributors to negative experiences, such as problems with receiving timely and correct products from the pharmacy. […] While participating caregivers satisfaction with care for children with IMD was high, we identified important areas where care could be improved, including care coordination and issues related to poor experiences in the emergency department and during hospitalizations.

• #34 Inherited metabolic disorders – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/inherited-metabolic-disorders/diagnosis-treatment/drc-20561225

  Some inherited metabolic disorders may be diagnosed before birth. Others can be diagnosed by routine newborn screening tests done at birth. Others are identified only after a child or adult shows symptoms of a disorder. […] Inherited metabolic disorders are rare and complex. Depending on the type and severity of the disorder and your or your child’s age, you may see several experts in inherited metabolic disorders. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed. […] Our caring team of Mayo Clinic experts can help you with your inherited metabolic disorders-related health concerns. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. Sometimes care begins with a stay in the hospital. For some types of inherited metabolic disorders, there are no treatments currently available.

• #35 Inherited metabolic disorders | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/inherited-metabolic-disorders

  Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #36 Inborn Errors of Metabolism in Infancy and Early Childhood: An Update | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/0601/p1981.html

  The physician should attempt to make fundamental distinctions between primary-genetic and secondary-acquired causes of conditions that present as developmental delay or failure to thrive. […] Initial laboratory investigations for older children are the same as for infants. […] Often, empiric therapeutic measures are needed before a definitive diagnosis is available. […] Traditional therapies for metabolic diseases include dietary therapy such as protein restriction, avoidance of fasting, or cofactor supplements. […] Even when no effective therapy exists or when an infant dies from a metabolic disorder, the family still needs an accurate diagnosis for clarification, reassurance, genetic counseling, and potential prenatal screening.

• #37 Inherited Metabolic Disorders

  https://www.nutricia.com/specialize/iem.html

  Harry was just 6 days old when he was diagnosed with tyrosinemia type 1. […] What this condition means for Harry is that he is now on a lifelong medication to prevent any brain, liver, or kidney damage. He follows a plant-based diet, using a synthetic form of protein to ensure a normal growth and development. […] For many patients diagnosed with an IMD, a severely restricted diet, often for life, is the gold standard to optimise outcomes. […] Nutricia is offering unwavering support for individuals providing nutritional solutions for the dietary management of over fifty-four known IMDs. […] Over 65 years of experience enables us to provide essential products and services to support adherence to a metabolic diet at every stage of life.

• #38 Biochemical Genetics – Seattle Children’s

  https://www.seattlechildrens.org/clinics/genetics/biochemical-genetics/

  We give your child a full diagnostic evaluation and comprehensive care. This includes: Testing for newborns who have abnormal results from Washington state newborn screenings, Complete nutritional assessments, Long-term metabolic management along with dietary treatments, Genetic counseling for children and adults with suspected or diagnosed inherited metabolic disorders, Connecting you and your family to resources in our hospital and community, Support from social workers to help you and your child adjust to and cope with having a lifelong metabolic disease. […] Nutrition therapy is often the cornerstone of medical treatment. Our dietitians and doctors partner to provide the best nutrition plan for each patient. We tailor a nutrition plan for your child to help them achieve their full growth and development, provide the nutrients they need, and modify carbohydrates, proteins or fat (macronutrients) as needed for their disorder.

• #39 Pediatric metabolic diseases – Children’s Health Metabolic Clinic

  https://www.childrens.com/specialties-services/conditions/metabolic-disease

  An individualized plan of dietary treatment is developed for each patient who has a confirmed diagnosis that is managed by diet. This includes disorders of amino acids, organic acids, and carbohydrate metabolism. […] The dietitian evaluates the patient’s current nutritional status, obtaining nutrition history from patients and parents, and develops dietary treatment plans by correlating blood levels with intake of target nutrients. […] The Metabolic Clinic provides genetic counseling and education related to inborn errors of metabolism. This may include an explanation of the patient’s diagnosis, mode of inheritance, chance of recurrence in future children or grandchildren, and information regarding prenatal diagnosis if applicable.

• #40 Pediatric metabolic diseases – Children’s Health Metabolic Clinic

  https://www.childrens.com/specialties-services/conditions/metabolic-disease

  An individualized plan of dietary treatment is developed for each patient who has a confirmed diagnosis that is managed by diet. This includes disorders of amino acids, organic acids, and carbohydrate metabolism. […] The dietitian evaluates the patient’s current nutritional status, obtaining nutrition history from patients and parents, and develops dietary treatment plans by correlating blood levels with intake of target nutrients. […] The Metabolic Clinic provides genetic counseling and education related to inborn errors of metabolism. This may include an explanation of the patient’s diagnosis, mode of inheritance, chance of recurrence in future children or grandchildren, and information regarding prenatal diagnosis if applicable.

• #41 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. ERT is not curative but can ameliorate symptoms or slow the progression of the disease. […] At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. […] At Stanford Childrens Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. […] The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases.

• #42 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. ERT is not curative but can ameliorate symptoms or slow the progression of the disease. […] At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. […] At Stanford Childrens Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. […] The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases.

• #43 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. ERT is not curative but can ameliorate symptoms or slow the progression of the disease. […] At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. […] At Stanford Childrens Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. […] The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases.

• #44 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. ERT is not curative but can ameliorate symptoms or slow the progression of the disease. […] At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. […] At Stanford Childrens Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. […] The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases.

• #45 Inherited metabolic disorders | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/inherited-metabolic-disorders

  Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. […] Treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are so many types of inherited metabolic disorders, treatment can vary a great deal. A few examples of treatments include special diets, enzyme replacement, vitamin therapy, medicines and liver transplants. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #46 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  If your child has a diagnosis of a metabolic disorder, our multidisciplinary team of specialists provide treatment specific to each patient’s metabolic condition. […] This may include dietary management with a metabolic nutritionist, enzyme replacement therapy and, in advanced cases, transplantation for bone marrow, liver, kidney or heart. […] Genetic counseling may be recommended to provide information on the recurrences of the metabolic disorder and any available testing.

• #47 Inborn Errors of Metabolism (IEM) – Inherited Metabolic Disorders

  https://my.clevelandclinic.org/health/diseases/17962-inherited-metabolic-disorders

  Inborn errors of metabolism, also known as inherited metabolic disorders or hereditary metabolic disorders, are a group of conditions that affect your ability to convert food into energy and remove waste and unhealthy substances from your body. […] Treatment for inborn errors of metabolism varies based on the type but could include: […] Changing your diet: Since your body has trouble processing foods and beverages, removing certain food items from your diet can prevent flares of symptoms. […] Taking medicine: Your provider might recommend taking certain medicines that can help your metabolism function as expected. Drugs could include enzyme or chemical replacements. […] Inborn errors of metabolism can cause you to feel tired and lethargic. You might not have the energy to do normal activities during a flare of symptoms. Its important to follow your providers treatment plan to make sure youre eating and drinking food products that are safe for your body to process. […] There are hundreds of inborn errors of metabolism that affect how your body processes food products. Most conditions are easily treatable with medication and dietary changes. Early detection and treatment lead to the best prognosis.

• #48 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #49

  https://link.springer.com/article/10.1007/s40271-021-00538-8

  While generally satisfied with care, parents of children with IMD reported recent memorable negative experiences with their childs healthcare, particularly in the emergency department and during hospitalization. These negative experiences were often related to poor provider demeanor, lack of communication, poor involvement of the family, and disregard of emergency protocol letters. […] Our findings provide an important foundation for understanding where gaps in family-centered healthcare are for children with IMD, informing the development of interventions and strategies to address those gaps and ultimately improve healthcare for children with IMD.

• #50 Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0548-2

  Parents’ social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. […] Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD. […] Parents commonly reported that children required frequent health care interactions involving multiple providers from various disciplines. […] Most participants were highly satisfied with the care that their child received in the specialist metabolic clinic, with metabolic health care providers regarded as supportive, and dietitians in particular described as highly engaged with families. […] Although respondents expressed contentment with IMD-specific care, many participants reported negative experiences and dissatisfaction with non IMD-specific components of the health care system that were used frequently by their child. […] While these frustrations were often relayed as single anecdotal experiences, parents emphasized their importance as sources of stress that impacted quality of life.

• #51 Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0548-2

  We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. […] Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. […] An important source of stress was concern about the social challenges faced by their children. […] Participants reported positive interactions with their most involved health care providers within the metabolic clinic. […] However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child’s disease. […] The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study.

• #52 Care Needs of Children with Inborn Errors of Metabolism and Their Parents: An Integrative Review

  https://brieflands.com/articles/jjcdc-139791

  Parents need peer support from families with similar experiences, access to other support groups, and local community events to benefit from the support of one another. […] The healthcare system must support the transition from pediatric to adult healthcare providers. […] The healthcare system level needs interventions that can provide patients and families with access to services and follow-ups, medicine or enzyme prescriptions, specific diet, and insurance coverage of medical foods and medical services.

• #53 Diagnosis and Treatment of Inherited Metabolic Disorders – Pediatric Neurology and Neurosurgery | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/inherited-metabolic-disorders/diagnosis-and-treatment

  Your child’s healthcare team includes pediatric neurologists, genetics experts, registered dietitians, nurses, child life specialists, social workers, and any other professionals needed to provide care, all in one location. […] The care of patients with metabolic disorders can be complex. […] At the Children’s Hospital of New York, the pediatric neurology team takes a multidisciplinary approach that focuses on the whole child and offers them the best opportunity to enjoy a normal transition from childhood to adulthood. […] Children who have a lifelong need for specialized care, such as those with inherited metabolic disorders, are embraced by our care teams. […] Our teams work with children through their adolescence, teen years, and early adulthood to help them understand their responsibility for their health and achieve their personal goals at every stage.

• #54 Patients with inherited metabolic diseases and epilepsy | JMDH

  https://www.dovepress.com/multidisciplinary-care-of-patients-with-inherited-metabolic-diseases-a-peer-reviewed-fulltext-article-JMDH

  As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patients and familys education, support for self-management, liaison with peer support groups and emotional/ psychological support. […] Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. […] Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.

• #55 Patients with inherited metabolic diseases and epilepsy | JMDH

  https://www.dovepress.com/multidisciplinary-care-of-patients-with-inherited-metabolic-diseases-a-peer-reviewed-fulltext-article-JMDH

  As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patients and familys education, support for self-management, liaison with peer support groups and emotional/ psychological support. […] Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. […] Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.

• #56 Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0548-2

  We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. […] Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. […] An important source of stress was concern about the social challenges faced by their children. […] Participants reported positive interactions with their most involved health care providers within the metabolic clinic. […] However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child’s disease. […] The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study.

• #57 Pediatric metabolic diseases – Children’s Health Metabolic Clinic

  https://www.childrens.com/specialties-services/conditions/metabolic-disease

  An individualized plan of dietary treatment is developed for each patient who has a confirmed diagnosis that is managed by diet. This includes disorders of amino acids, organic acids, and carbohydrate metabolism. […] The dietitian evaluates the patient’s current nutritional status, obtaining nutrition history from patients and parents, and develops dietary treatment plans by correlating blood levels with intake of target nutrients. […] The Metabolic Clinic provides genetic counseling and education related to inborn errors of metabolism. This may include an explanation of the patient’s diagnosis, mode of inheritance, chance of recurrence in future children or grandchildren, and information regarding prenatal diagnosis if applicable.

• #58 Inherited Metabolic Disease Specialty Center – Pediatric Genetics – Golisano Children’s Hospital – University of Rochester Medical Center

  https://www.urmc.rochester.edu/childrens-hospital/genetics/metabolic-center.aspx

  We serve as a designated follow-up treatment center for the New York State Newborn Screening Program for metabolic disorders. […] Babies who test positive for these disorders are referred to the Inherited Metabolic Disease Specialty Center for evaluation (including a social history and physical exam) and further diagnostic testing. […] If your child is diagnosed with a metabolic disease, one of our board-certified pediatric genetic and metabolic specialists will provide a treatment plan for your child’s disorder. […] Each child receives a comprehensive evaluation for his or her special medical needs. […] Support services offered to these children and their families include: Education about the disorder, Self-care training for patients and families. […] The Division of Pediatric Genetics works closely with the New York State Newborn Screening Program to ensure the provision of expert services for children.

• #59 Care Needs of Children with Inborn Errors of Metabolism and Their Parents: An Integrative Review

  https://brieflands.com/articles/jjcdc-139791

  Their parents and caregivers’ physical, psychological, and social health is also affected. […] These diseases increase parental and familial stress, and the more parental stress, the less psychological parent-child psychological adjustment. […] Parents experience depression, sleep disorders, and low quality of life and have more struggles than other families. […] The purpose of this integrative review is to identify the care needs of children with IEMs and their parents. Clarifying these needs can be helpful in programming care plans and implementing patient-centered and multidisciplinary approaches. […] The most important need of parents is psychological support and assessment. It should begin as soon as the diagnosis is made because parents must focus on care demands, grief induced by illness-related losses, and future expectations reorientation.

• #60 Care Needs of Children with Inborn Errors of Metabolism and Their Parents: An Integrative Review

  https://brieflands.com/articles/jjcdc-139791

  Parents need peer support from families with similar experiences, access to other support groups, and local community events to benefit from the support of one another. […] The healthcare system must support the transition from pediatric to adult healthcare providers. […] The healthcare system level needs interventions that can provide patients and families with access to services and follow-ups, medicine or enzyme prescriptions, specific diet, and insurance coverage of medical foods and medical services.

• #61 Experiences of caregivers of children with inherited metabolic diseases: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0548-2

  We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. […] Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. […] An important source of stress was concern about the social challenges faced by their children. […] Participants reported positive interactions with their most involved health care providers within the metabolic clinic. […] However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child’s disease. […] The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study.

• #62 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  There are presently therapies used for some of the inherited metabolic disorders that are quite efficacious, including medications and dietary therapy, and can help to varying degrees of effect depending on the particular disorder, Tramontana says. […] Whenever possible, a person with an inherited metabolic disorder should get care at a medical center experienced with these rare conditions. […] Children and adults with inherited metabolic disorders can become very ill, requiring hospitalization and sometimes life support. Treatment during these episodes focuses on emergency care and improving organ function. […] Experts continue to search for effective ways to treat these disorders. […] There are new and promising therapies coming out in the realm of gene therapy, enzyme replacement therapy, and prenatal therapies in fetuses with a known diagnosis, Tise says.

• #63 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  There are presently therapies used for some of the inherited metabolic disorders that are quite efficacious, including medications and dietary therapy, and can help to varying degrees of effect depending on the particular disorder, Tramontana says. […] Whenever possible, a person with an inherited metabolic disorder should get care at a medical center experienced with these rare conditions. […] Children and adults with inherited metabolic disorders can become very ill, requiring hospitalization and sometimes life support. Treatment during these episodes focuses on emergency care and improving organ function. […] Experts continue to search for effective ways to treat these disorders. […] There are new and promising therapies coming out in the realm of gene therapy, enzyme replacement therapy, and prenatal therapies in fetuses with a known diagnosis, Tise says.

• #64 Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-0831-4

  Should this emergency last for longer periods of time, limited access to such evaluations might have a serious impact on the health of our IMD patients and to avoid this, we would need to implement further contingency plans. […] To overcome this problem, we have ensured that a minimum of non-COVID-19 beds remain available, should patients with IMD or other chronic illness require hospital admissions. […] For ongoing clinical trials, new recruitments were put on hold and all the activities focused on already enrolled subjects. […] Being not deferrable and potentially associated with emergency, all activities related to expanded newborn screening were preserved. […] Other activities, including drug prescriptions, adjustments of dietary protocols, and disease certifications were remodulated, mostly through telemedicine tools.

• #65 Inherited metabolic diseases (IMD) – Overview | Guy’s and St Thomas’ NHS Foundation Trust

  https://www.guysandstthomas.nhs.uk/our-services/inherited-metabolic-diseases-imd

  We treat adults with inherited metabolic diseases (IMD). This is a group of more than 750 conditions that are genetic, inherited problems of the metabolism. […] We offer investigation and management for IMDs, including: […] Research is vital to improving the care that you receive when you’re unwell.

• #66 Inherited Metabolic Disorders: Types, Signs, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

  Inherited metabolic disorders are genetic conditions that result in metabolism problems. […] Each of these inherited metabolic disorders is individually very rare. However, when considered together, theyre not so uncommon. […] An inherited metabolic disorder messes up the works, disrupting the assembly line. The consequences can be very bad. […] These disorders affect the breakdown or synthesis of proteins, lipids and sugars essential for the normal function of our body, says Eva Morava, MD, PhD, the director of the Inherited Metabolic Diseases Program at the Icahn School of Medicine at Mount Sinai in New York City, NY. Untreated, these disorders can lead to multiorgan failure and death. […] Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition cant be corrected with the technology we have right now. Instead, treatments try to work around the problem with metabolism.

• #67 Inherited Metabolic Disease | Division of Medical Genetics | Stanford Medicine

  https://med.stanford.edu/medicalgenetics/Metabolicdisease.html

  Enzyme replacement therapy (ERT) is a treatment that replaces missing enzymes in individuals with lysosomal enzyme deficiencies. ERT is not curative but can ameliorate symptoms or slow the progression of the disease. […] At Lucile Packard Children Hospital highly trained physicians and nurse practitioners help ensure our patients are initiated on the appropriate therapy promptly. […] At Stanford Childrens Health, we have a multidisciplinary team to care for metabolic patients undergoing HSCT. […] The Program for Inherited Metabolic Disorders (PIMD) was established to promote the development of stem cell and gene therapies for metabolic diseases.

• #68 inherited metabolic disorders

  https://rarerevolutionmagazine.com/flok-pioneering-patient-led-research-for-inherited-metabolic-disorders-imd/

  This article refers to a class of disorders known as inherited metabolic disorders (IMD), also referred to as inborn errors of metabolism (IEM). […] The rise of artificial intelligence (AI) and machine learning have transformed medical science over the past decade, sparking breakthroughs for many common conditions. People born with rare inherited metabolic conditions, however, have yet to benefit from these advancements. […] The data essential to leveraging machine learning to advance research for rare IMDs does not yet exist. Without data-driven insights for new interventions, the treatment approach for these conditions remains largely the same: a restrictive, challenging, and costly low-protein medical diet, with FDA-approved treatments available to a limited segment of the population.

• #69 inherited metabolic disorders

  https://rarerevolutionmagazine.com/flok-pioneering-patient-led-research-for-inherited-metabolic-disorders-imd/

  This article refers to a class of disorders known as inherited metabolic disorders (IMD), also referred to as inborn errors of metabolism (IEM). […] The rise of artificial intelligence (AI) and machine learning have transformed medical science over the past decade, sparking breakthroughs for many common conditions. People born with rare inherited metabolic conditions, however, have yet to benefit from these advancements. […] The data essential to leveraging machine learning to advance research for rare IMDs does not yet exist. Without data-driven insights for new interventions, the treatment approach for these conditions remains largely the same: a restrictive, challenging, and costly low-protein medical diet, with FDA-approved treatments available to a limited segment of the population.

• #70 inherited metabolic disorders

  https://rarerevolutionmagazine.com/flok-pioneering-patient-led-research-for-inherited-metabolic-disorders-imd/

  The IMD community has significant unmet needs. We deserve to benefit from the data-driven advances that are reshaping other areas of medicine. […] Those with IMDs both require and generate significant data in their daily care, but the potential of that data to improve care is untapped. […] The primary treatment for IMD of protein metabolism is a low-protein diet, formula to provide protein without the toxic metabolite, and regular monitoring of chemical biomarkers, generally through blood tests. […] The flok app, which launched in Open Beta for the United States on November 11, 2024, widens the lens of care to serve those with classical homocystinuria, maple syrup urine disease, organic academias, phenylketonuria, tyrosinemia, and urea cycle disorders. […] Despite differences in the underlying biochemical characteristics of their conditions, these groups share a common treatment—the low-protein diet—and common needs: a less-restrictive diet, simplified nutritional management, a deeper understanding of their conditions, new treatment options, and ultimately, cures.

• #71 CHOC Nurses Further Knowledge of Metabolic Disorders – Children’s Hospital of Orange County

  https://choc.org/news/choc-nurses-knowledge-metabolic-disorders/

  CHOC Children’s nurses furthered their knowledge of metabolic disorders during a recent educational conference designed to lead to improved care of patients with such conditions. […] “The ABCs of Nursing Care of Metabolic Disorders” provided more than two dozen CHOC nurses with information about various conditions, as well as insight into the plights of families of patients with metabolic disorders. […] This course is the first step to a new initiative aimed to identify a selected group of nurses who will receive specialized training in the care of metabolic patients. […] “This course helped CHOC nurses deepen their understanding of metabolic conditions, as well as the experiences of patients with metabolic disorders and their families,” says Dr. Jose Abdenur, division chief of metabolic disorders at CHOC.

• #72 CHOC Nurses Further Knowledge of Metabolic Disorders – Children’s Hospital of Orange County

  https://choc.org/news/choc-nurses-knowledge-metabolic-disorders/

  CHOC Children’s nurses furthered their knowledge of metabolic disorders during a recent educational conference designed to lead to improved care of patients with such conditions. […] “The ABCs of Nursing Care of Metabolic Disorders” provided more than two dozen CHOC nurses with information about various conditions, as well as insight into the plights of families of patients with metabolic disorders. […] This course is the first step to a new initiative aimed to identify a selected group of nurses who will receive specialized training in the care of metabolic patients. […] “This course helped CHOC nurses deepen their understanding of metabolic conditions, as well as the experiences of patients with metabolic disorders and their families,” says Dr. Jose Abdenur, division chief of metabolic disorders at CHOC.

• #73 CHOC Nurses Further Knowledge of Metabolic Disorders – Children’s Hospital of Orange County

  https://choc.org/news/choc-nurses-knowledge-metabolic-disorders/

  CHOC Children’s nurses furthered their knowledge of metabolic disorders during a recent educational conference designed to lead to improved care of patients with such conditions. […] “The ABCs of Nursing Care of Metabolic Disorders” provided more than two dozen CHOC nurses with information about various conditions, as well as insight into the plights of families of patients with metabolic disorders. […] This course is the first step to a new initiative aimed to identify a selected group of nurses who will receive specialized training in the care of metabolic patients. […] “This course helped CHOC nurses deepen their understanding of metabolic conditions, as well as the experiences of patients with metabolic disorders and their families,” says Dr. Jose Abdenur, division chief of metabolic disorders at CHOC.

• #74 CHOC Nurses Further Knowledge of Metabolic Disorders – Children’s Hospital of Orange County

  https://choc.org/news/choc-nurses-knowledge-metabolic-disorders/

  The daylong course comprised nine informational sessions, beginning with an introduction to metabolic disorders and principles of care for such conditions. […] CHOC’s metabolic disorders division is one of the largest of its kind in California, treating children with rare and complicated conditions that can affect patients throughout their entire lives.

• #75 Inherited Metabolic Disorders: Identification and Management in Infants and Children

  https://ecourses.nursebuilders.net/courses/inherited-metabolic-disorders-identification-and-management-in-infants-and-children

  This nursing continuing professional development e-course addresses evidence-based care for infants and children with inherited metabolic disorders including a general overview, screening, assessment, and management of common metabolic disorders. […] This e-course provides an evidence-based overview of inherited metabolic disorders in infants and children including a general overview, screening, assessment, and management of common metabolic disorders.

• #76 Inherited Metabolic Disorders: Identification and Management in Infants and Children

  https://ecourses.nursebuilders.net/courses/inherited-metabolic-disorders-identification-and-management-in-infants-and-children

  This nursing continuing professional development e-course addresses evidence-based care for infants and children with inherited metabolic disorders including a general overview, screening, assessment, and management of common metabolic disorders. […] This e-course provides an evidence-based overview of inherited metabolic disorders in infants and children including a general overview, screening, assessment, and management of common metabolic disorders.

• #77 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #78 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #79 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #80 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #81 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #82 Program for Inherited Metabolic Diseases | Mount Sinai – New York

  https://www.mountsinai.org/care/genetics/services/inherited-metabolic-diseases

  Disorders that are treated in the PIMD at Mount Sinai include: Argininemia, Argininosuccinic Acid Lyase deficiency, Beta ketothiolase deficiency, Biotinidase deficiency, Carnitine cycle disorders, Carbamylphosphate synthetase deficiency (CPS-1), Carnitine palmitoyl transferase 1 deficiency (CPT-1), Carnitine palmitoyl transferase 2 deficiency (CPT2), Carnitine translocase deficiency, Citrullinemia, Cobalamin disorders (cbl a, b, c, etc.), Congenital Disorders of Glycosylation (CDG), Developmental delay, 2,4 Dienyl CoA reductase deficiency, Failure to thrive, Fatty Acid Oxidation defects, Fucosidosis, Galactosemia, Glutaric acidemia types 1 and 2, Glutathione synthetase deficiency, Glycogen storage diseases, GPI-anchor disorders, Holocarboxylase synthetase deficiency, Homocystinuria, Hyperammonemia, homocitrullinemia, hyperornithinemia syndrome (HHH), Hypermethioninemia, Hyperprolinemia, Hypoglycemia, Isovaleric acidemia, Krabbe disease, Long chain hydroxyl acyl CoA dehydrogenase deficiency (LCHAD), Lysosomal Storage Diseases, Maple syrup urine disease, Malonic aciduria, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Metabolic acidosis, 3-Methylcrotonyl CoA carboxylase deficiency, Methylene tetrahydrofolate reductase deficiency (MTHFR), Methylmalonic acidemia, Mitochondrial diseases, Mucopolysaccharidoses, Multiple Acyl CoA dehydrogenase deficiency, Niemann-Pick disease types A, B, and C, Organic acidemias, Ornithine carbamylase deficiency, Phenylketonuria, Pompe disease, Propionic acidemia, Seizure disorders, Short chain acyl CoA dehydrogenase deficiency (SCAD), Tay Sachs Disease, Tetrahydrobiopterin deficiencies, Trifunctional protein deficiency, Trimethylaminuria, Tyrosinemia, Urea cycle defects, Very long chain acyl CoA dehydrogenase deficiency (VLCAD). […] Our doctors accept most major commercial insurance plans. Testing will be coordinated, as far as possible, through insurance plans.

• #83 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. […] Metabolic disorders are generally chronic and progressive and can involve multiple organs, thus early diagnosis and treatment are crucial to avoid further complications. […] Optimal care for patients with rare metabolic disorders can be achieved only through a joint effort. […] Disorders of amino acid metabolism include, between others, homocystinuria, Hartnup disease, phenylketonuria and tyrosinemia. […] This group encompasses many metabolic disorders which are identifiable through standard metabolic assessments, such as amino acids and organic acids analysis, and are often responsive to dietary interventions.

• #84 Inherited Metabolic Disorders: Overview and Resources

  https://metab.ern-net.eu/inherited-metabolic-disorders/

  Disorders of carbohydrate metabolism represent a diverse group of conditions with varying clinical presentations. […] These disorders can be categorised based on either deficiencies or hyperactivity of specific enzymes involved in carbohydrate metabolism. […] Disorders of lipid metabolism and transport encompass a wide range of conditions that affect the metabolism of various lipid types (fatty acids, sphingolipids, sterol lipids) and of lipoproteins, from the first stages of biosynthesis to their transport within the body. […] Disorders of cofactors and mineral metabolism encompass a wide range of conditions that affect the body’s ability to produce, absorb, or utilize essential vitamins, minerals, and cofactors. […] Treatment often involves dietary changes, supplements, or medications to correct the mineral imbalance. […] Endocrine metabolic disorders highlight how metabolic and hormonal systems are interconnected.

• #85 Introduction to inherited metabolic diseases | Nursing Times

  https://www.nursingtimes.net/research-and-innovation/introduction-to-inherited-metabolic-diseases-15-11-2013/

  Inherited metabolic diseases (IMDs) are a group of over 500 inherited conditions caused by deficient activity of a single enzyme. […] Early diagnosis, the development of new treatments and improved management in childhood have resulted in increasing numbers of patients surviving to adulthood. […] Complications and co-morbidities are frequently managed in both primary and acute care as well as in tertiary referral centres. […] Patients are most at risk during times of inadequate calorie intake from fat or carbohydrate, such as during times of illness or starving before and after a general anaesthetic. […] These patients are managed with high carbohydrate emergency regimens as well as ammonia-scavenging medication. […] Many patients with these conditions carry cards to alert health professionals. […] Some LSDs are treated with enzyme replacement therapy. These expensive therapies are not a cure but may reduce symptoms and delay disease progression.

• #86 Metabolic Disorders | Kennedy Krieger Institute

  https://www.kennedykrieger.org/patient-care/conditions/metabolic-disorders

  The most severe metabolic diseases can be lethal if not treated immediately after birth, while others may cause only very slow injury or lead to a damaging metabolic crisis only once in a lifetime. […] Although each metabolic disease individually is rare, there are more than 1,300 known metabolic diseases, and collectively they represent a significant cause of illness and disability in children. […] Although all state newborn screening programs test for metabolic diseases, most states test for fewer than 10 of the more common ones. […] Specialized laboratory testing available only in a few major pediatric centers, like Kennedy Krieger Institute, is required to diagnose most metabolic diseases.

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