Materiały źródłowe

• #1 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. […] In some cases, future parents may choose to have carrier testing before pregnancy, also called preconception screening. This test can identify some gene changes in parents that may increase the risk that future children will have certain types of inherited metabolic disorders. […] Genetic counseling can include discussion of newborn screening or other genetic testing. Counseling also can include information on the risk of an inherited metabolic disorder for future children. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #1 Inherited Metabolic Disorders Program | Children’s National Hospital

  https://www.childrensnational.org/get-care/departments/inherited-metabolic-disorders-program

  Inherited metabolic disorders are rare among the general population and may often be misdiagnosed, as symptoms often mirror those associated with other conditions. […] Newborn screening (NBS) is widely recognized as an essential, life-saving public health program. […] Early treatment improves outcomes dramatically. […] At an NBS Follow-Up Program clinic visit, a nurse practitioner or geneticist will take a complete medical and family history, perform a physical exam, order necessary diagnostic laboratory testing and start any necessary or preventative treatment. […] There are currently no cures for inherited metabolic disorders, and many of these conditions are associated with frequent hospitalizations and long-term intellectual disability. […] Liver transplantation may effectively treat some of these conditions, stabilizing intellectual outcomes and preventing other disease manifestations.

• #1 Introduction to Inherited Disorders of Metabolism – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/introduction-to-inherited-disorders-of-metabolism

  All states in the United States routinely do neonatal screening of all newborns for specific inherited disorders of metabolism and other conditions, including phenylketonuria, tyrosinemia, biotinidase deficiency, homocystinuria, maple syrup urine disease, and galactosemia. […] Many states have an expanded screening program that covers many more inherited disorders of metabolism, including disorders of fatty acid oxidation and other organic acidemias.

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

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

  The Inherited Metabolic Diseases program focuses on delivering advanced clinical and diagnostic services for children and adults affected by the inborn of metabolism. We provide complete diagnostic evaluations, testing, interpretation of test results, and long-term medical and nutritional management. […] We are one of the largest in the country dedicated to the understanding, prevention, treatment, and cure of genetic diseases and birth defects, committed to providing outstanding medical care for patients with inherited metabolic diseases as well as researching and developing new, improved therapies for these conditions. […] All newborn babies are screened shortly after birth to be tested for diseases that can be harmful or life-threatening if they are not diagnosed and treated as early as possible.

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

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

  The state lab tests your child’s sample for over 40 diseases that may affect your baby’s health. If your child’s test appears abnormal, the state will notify the nearest Newborn Screening Referral Center. […] When that happens, the state newborn screening lab will request a second newborn screening test. Should the secondary tests’ results remain abnormal, the baby will then be referred to Mount Sinai Hospital.

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

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

  You cant prevent inborn errors of metabolism because theyre the result of genetic changes. […] If you plan on expanding your family, talk to your provider about genetic testing to learn more about the risks of having a child with a genetic condition.

• #1 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. […] 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. […] The care of patients with metabolic disorders can be complex. We have a dedicated educational program for your child and your family to teach you how to monitor your child, maintain an appropriate diet, know when to call for help, and understand what to do for your child in times of illness or in case of an emergency.

• #1 Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet

  https://emedicine.medscape.com/article/804757-treatment

  Goals of treatment for patients with an IEM are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. […] Strict adherence to dietary and pharmacologic regimen is recommended for patients diagnosed with an IEM. Early treatment of symptoms and recognition that physiologic stressors, including intercurrent illness, trauma, surgery, and changes in diet, may precipitate symptoms is important in avoiding metabolic decompensation. […] Nutritional interventions for IEMs include medical foods and dietary supplements along with dietary modifications to exclude nutrients that cannot be metabolized due to the specific IEM. The use of medical foods and/or dietary supplements prevent death, intellectual disability, or other adverse health outcomes. […] Odimet is a free online tool that helps patients adhere to dietary restrictions and requirements in the management of congenital metabolic diseases.

• #1 Inherited Metabolic Disorders: Aspects of Chronic Nutritional Management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4515158/

  The introduction of newborn screening and the development of new therapies have led to an expanding population of patients with inherited metabolic disorders, and these patients are now entering adulthood. […] Dietary therapy is the mainstay of treatment for many of these disorders and thus, trained metabolic dietitians are critical members of the multidisciplinary team required for management of such patients. […] The goal of this review is to highlight the basic principles of chronic nutritional management of the inborn errors of protein, carbohydrate and fat metabolism. […] A basic principle of management in these disorders is to reduce the tissue and plasma concentrations of toxic substrates by reducing the consumption of nutrients that produce toxic products or by increasing excretion of such toxic metabolites.

• #1 Inherited Metabolic Disorders: Aspects of Chronic Nutritional Management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4515158/

  The dietary manipulations required for managing patients with inborn errors of metabolism may place patients at risk for an essential amino acid, fatty acid, or micronutrient deficiency. […] Special medical formulas that include macro- and micronutrients but omit the offending substrate are available to help prevent such deficiencies. […] Comprehensive, nutrition management guidelines for MSUD were recently published and may be used as a guide for therapy. […] The primary goal of nutritional intervention in GSD 1a is maintaining normoglycemia (70 to 100 milligrams per deciliter (mg/dL)) while minimizing hyperlipidemia, hyperuricemia and other clinical manifestations such as growth impairment. […] The management of patients with many inborn errors of metabolism requires a multi-disciplinary approach which combines both nutritional and medical management. […] In these disorders, nutritional therapy is a critical component of the management to prevent acute complications, such as metabolic decompensation, and/or to prevent long-term complications of the given disorder.

• #1 Emergency management of inherited metabolic diseases – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12638937/

  Inherited metabolic diseases with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with reduced fasting tolerance, (3) disorders with disturbed energy metabolism, (4) disorders of neurotransmission and (5) disorders in which no specific emergency treatment is available. […] Diagnostic emergency laboratory evaluation should cover all differential diagnoses that are therapeutically relevant and should always include ammonia, glucose, lactate and acid-base status as well as testing the urine for ketones. […] According to the clinical situation and biochemical derangement, special metabolic investigations must be initiated in parallel. […] There is general agreement with regard to some therapeutic strategies that are clearly explained by pathophysiology: in disorders with endogenous intoxication, anabolism must be promoted and specific detoxification measures initiated. […] In disorders with reduced fasting tolerance, administration of glucose at the rate of hepatic glucose production forms the basis of treatment. […] Correction of acidosis is a major goal in disorders with disturbed mitochondrial energy metabolism, while glucose supply may have to be limited.

• #1 About MNT4P | MNT4P

  https://mnt4p.org/about-mnt4p/

  The Medical Nutrition Therapy for Prevention Program strives for a metabolic community in Georgia that provides equal and appropriate access to medical nutrition therapy for patients with inherited metabolic disorders, regardless of income status. […] The Medical Nutrition Therapy for Prevention Program bridges the coverage gap for patients with inherited metabolic disorders in the state of Georgia. MNT4P takes a holistic approach to medical nutrition therapy through comprehensive nutrition services, including but not limited to medical foods, low-protein modified foods, and treatment and monitoring-related supplies. The program additionally provides support services for insurance navigation, healthcare assessment, and access to ensure the prevention of poor health outcomes and improved health-related quality of life. […] MNT4P is designed to serve and support Georgia residents living with inherited metabolic disorders.

• #1 Inherited Metabolic Diseases Program | ontario.ca

  http://www.ontario.ca/page/inherited-metabolic-diseases-program

  The Inherited Metabolic Diseases (IMD) Program, through the Ministry of Health, covers the full cost of certain outpatient drugs, supplements and specialty foods used in the treatment of specific inherited metabolic disorders. […] Only the metabolic disorders and funded products as listed in the List of Disorders, Covered Drugs, Supplements and Specialty Foods are covered by the IMD Program. […] To ensure that appropriate treatments are being provided to IMD Program patients, special treatment facilities have been designated to distribute the funded products. […] To qualify for the Inherited Metabolic Diseases Program, you must: […] You do not qualify if you already receive coverage for these drugs, supplements or products through private insurance or employee benefits.

• #1 Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01727-2

  The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively treatable IDs). […] The most frequent therapeutic interventions were nutritional, pharmacological and vitamin and trace element supplementation. […] Although there has been much attention to gene-based and enzyme replacement therapy, the majority of effective treatments are nutritional, which are relatively affordable, widely available and (often) surprisingly effective. […] Our digital tool is freely available as Native and Web App (www.treatable-id.org) with several novel features. […] The Treatable ID App has a steady audience. Over the past 8 years there have been over 75,000 different users for the web App and over 10,000 downloads of the native App.

• #1 Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01727-2

  The Treatable ID App is also part of the Treatable Intellectual Disability Endeavor (TIDE) diagnostic protocol. […] The same was shown in a prospective way, in our TIDE study which implemented the Treatable ID algorithm in 498 unexplained ID patients referred to a tertiary care centre (biochemical and clinical genetics as well as neurology departments) as add-on to clinical practice parameters at the time (2015). […] The ultimate goal of creating a Treatabolome database comprising rare disease treatments at gene and variant levels was recently outlined. […] The diagnostic algorithm as shown in Fig. 1 is our recommendation, based on the yield of metabolic tests combined in the tiers, as well as availability at most if not all metabolic laboratories. […] The updated Treatable ID App is designed to serve as an up-to-date, easily accessible and freely available digital tool for all clinicians and laboratory specialists evaluating children presenting with ID.

• #1 OBM Genetics | Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

  https://www.lidsen.com/journals/genetics/genetics-07-04-196

  The goal of nutrition therapy for GA-1 is to restrict lysine intake using lysine-free medical foods while providing sufficient lysine through intact protein sources such as breast milk, infant formulas, or food to meet lysine goals. […] Treatment of MSUD consists of a low leucine diet to maintain near-normal plasma leucine levels. […] During illness, serious injury, or surgery, aggressive nutrition management is provided to prevent or reverse catabolism by removing or significantly reducing leucine intake, supplying adequate energy, increasing BCAA-free protein, and adding hypertonic saline with appropriate electrolytes and insulin to prevent hyperglycemia. […] The dietary restrictions can be eased after the vulnerable period for striatal damage, typically around 6 years of age. […] Newborn screening and medical nutrition therapy play integral roles in the treatment of inherited metabolic disorders. The expansion of newborn screening has allowed for the inclusion of a wide range of disorders, which have shown significant improvements in outcomes when detected and treated early. Coupled with medical nutrition therapy, which provides appropriate nutrition to support growth and development while limiting the offending substrate, these interventions offer a comprehensive approach to managing inherited metabolic disorders.

• #1 Metabolic and nutritional disorders congenital – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/metabolic-and-nutritional-disorders-congenital

  In addition to dietary changes, enzyme replacement therapy and medications play a significant role in managing metabolic disorders. Enzyme replacement aims to restore normal metabolism by supplementing the missing or inactive enzyme. Medications may also include supplements that support enzyme function or drugs that detoxify harmful metabolic by-products. […] Long-term management of inherited metabolic disorders involves regular healthcare visits to monitor the effectiveness of treatment and adjust as necessary. This includes routine follow-up screenings to detect potential complications early. Genetic counseling and nutritional support are also integral parts of the care plan, helping patients and their families understand the condition and manage it effectively. […] Early detection through newborn screening has significantly improved the management of these disorders, reducing the risk of acute presentations triggered by food intake. This proactive approach helps in avoiding delayed diagnosis and potentially life-threatening consequences. Early intervention is key to improving outcomes and quality of life.

• #1 Inherited Metabolic Disorders Care at OHSU

  https://www.ohsu.edu/doernbecher/inherited-metabolic-disorders

  OHSU Doernbecher Childrens Hospital provides state-of-the art care for people with inherited metabolic disorders. We offer: […] Inherited metabolic disorders often cant be cured. In most cases, people have them for life. We focus on getting metabolism as close to normal as possible. […] Our team meets weekly to discuss patients cases and coordinate treatment plans. Each patient may see a doctor, nurse practitioner, nurse, dietitian and genetic counselor. We regularly check each patients growth, nutrition and development. […] Treatment can include: […] Avoiding certain foods or limiting time between meals […] Diets that limit nutrients the body cant break down […] Enzyme replacement or other supplements to help with metabolism […] Medications that help the body get rid of certain substances.

• #1 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

  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. […] If your child has a diagnosis of a metabolic disorder, our multidisciplinary team of specialists provide treatment specific to each patient’s metabolic condition.

• #1 Inherited Metabolic Disorders Care at OHSU

  https://www.ohsu.edu/doernbecher/inherited-metabolic-disorders

  The OHSU Metabolic Food Room provides medical foods and formulas for patients with inherited metabolic disorders. […] Most insurance plans that cover medical food and formula require advance approval. If we dont have this approval, you may be billed or have your order delayed. […] If your insurance doesnt cover medical food or formula, you can: […] Contact OHSU Financial Assistance […] Ask OHSU Patient Billing Services about a payment plan […] Apply to a patient assistance program for people with rare diseases […] Ask us to speak with your insurer about your needs […] Pay out of pocket.

• #1 OBM Genetics | Role of Metabolic Nutrition in Newborn Screening and Inherited Metabolic Disorders

  https://www.lidsen.com/journals/genetics/genetics-07-04-196

  The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. […] Most of these newly screened metabolic disorders are treatable with comprehensive nutrition and medical management. […] Medical management of patients with metabolic disorders requires a team approach, including geneticists, metabolic dietitians, genetic counselors, nurses, and social workers. Metabolic dietitians are registered dietitians with specialized training in providing medical nutrition therapy to patients with inherited metabolic disorders using the latest evidence-based methods. […] Common elements of nutrition management of all FAODs include fasting avoidance, aggressive treatment during illness, and carnitine supplementation only if deficient.

• #1 Inherited Metabolic Disease Program – NYC | ColumbiaDoctors Children’s Health

  https://www.columbiadoctors.org/childrens-health/pediatric-specialties/genetics-inherited-disorders/our-services/inherited-metabolic-disease-program

  The ColumbiaDoctors Inherited Metabolic Disease Program is a comprehensive program designed to diagnose, manage and counsel patients with inherited metabolic disorders and their families. […] Moreover, since the introduction of expanded newborn screening for IEM in the last 10 years, the number of patients diagnosed with these conditions has increased dramatically. Thus, the need for a dedicate team of health providers and ancillary personnel is critical. […] Our multidisciplinary program offers all the necessary components for successfully care for these patients. […] In addition, a steady supply of special formulas (medical foods) and specialized medications are available. […] Therefore, patients and parents are assured that care will be provided uninterrupted even is if after hours, on a holiday or over the weekends. […] Due to the possibility of acute decompensations, it is critical to have coverage 24/7/365, and therefore, being able to provide it makes all the difference for the patients and their families.

• #1 Inherited metabolic disorders involving the eye: a clinico-biochemical perspective | Eye

  https://www.nature.com/articles/eye2009229

  The latest discoveries in the human genome project and advances in medical technology have resulted in significant alterations in the diagnosis, classification, and treatment of IMDs. These changes will aid in early recognition and treatment of many known IMDs. It is absolutely essential that doctors diagnose IMDs early and whenever necessary, refer the patient to a tertiary care centre for better care, detailed laboratory workup, and management. […] Early diagnosis is crucial for three reasons. First, IMDs are rapidly progressive and cause irreversible damage early in the course of the disease. Second, the treatment can often be effective, if commenced early and long-term outcome may be improved. Lastly, correct early diagnosis helps in genetic counselling. […] Recognition of IMDs is important as it is quite common in incidence. The indications for metabolic studies to rule out the possibility of IMDs are discussed in Table 2. Early diagnosis is important, as in most cases, dietary restriction and early therapy prevents onset of disability. Prenatal diagnosis using amniocentesis and chorionic villus sampling may help to reduce the burden due to IMDs. Carrier testing is helpful and the possibility of partial defects or variants with normal activity must be remembered. The role of genetic counselling is invaluable in reducing the load due to IMDs and helps prevent high incidence in most cases.

• #1 Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine – The Journal of Pediatric Research

  https://jpedres.org/articles/impact-of-the-covid-19-pandemic-on-inherited-metabolic-diseases-evaluation-of-enzyme-replacement-treatment-adherence-with-telemedicine/doi/jpr.galenos.2022.04206

  During the COVID-19 pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic illnesses. Telemedicine may offer a good option for the management of chronic diseases such as lysosomal storage diseases (LSD). […] Telemedicine is a good method to improve the continuity of treatment. This study showed that the number of interrupted enzyme replacement treatments could be decreased via ongoing telemedicine appointments. […] Increasing the patient’s motivation for compliance with the treatment by communicating via the telemedicine method may be a good option for the treatment management of these patients. […] Telemedicine could be a good option for follow-up, management, and to ensure continuity of treatment of LSD patients in pandemic periods. Also, switching to home-based ERT may be an option which can increase treatment compliance for LSD individuals. The continuity of treatment of LSD patients is crucial in order to prevent comorbidities.

• #1 Inherited metabolic disorders involving the eye: a clinico-biochemical perspective | Eye

  https://www.nature.com/articles/eye2009229

  Through proper diagnosis and treatment, it is possible to prevent the natural history of the disease. […] The increasing application of new technologies, such as electrospray ionisation tandem mass spectrometry, to newborn screening in asymptomatic persons allows earlier identification of IMDs. […] Enzyme-replacement therapy follows the observation in 1970s that many lysosomal enzymes can be secreted and then sequestrated by lysosomes in distant tissues. […] Traditional therapies for IMDs include dietary therapy, such as protein restriction, cofactor supplements, and so on. Evolving therapies include organ transplantation and enzyme replacement. Efforts to provide treatment through somatic gene therapy are in early stage, but there is hope that this approach will provide additional therapeutic possibilities.

• #1 Genetic Prevention for metabolic defects in adulthood

  https://cegat.com/diagnostics/prevention/disease-prevention-panel/genetic-prevention-for-metabolic-defects-in-adulthood/

  Inherited metabolic diseases can manifest already in childhood, but also can become apparent for the first time in adulthood. A predictive genetic test can help to detect a potential risk early. If variants are present that make the occurrence of certain diseases more likely, preventive measures can help to mitigate or completely avoid the consequences of a disease. […] Lucy G. now regularly attends medical check-ups. If necessary, appropriate treatment can be started immediately and possible damage might be avoided. […] I am aware that potential damage caused by the disease can be mitigated or even avoided altogether if I act in time. […] Depending on the disease, early detection measures can be planned accordingly, and, if necessary, a lifestyle adjustment or therapy can be initiated.

• #1 Insurance coverage of medical foods for treatment of inherited metabolic disorders

  https://stacks.cdc.gov/view/cdc/32981

  Purpose Treatment of inherited metabolic disorders is accomplished by use of specialized diets employing medical foods and medically necessary supplements. […] Costs of medical foods used to treat inherited metabolic disorders are not completely covered by insurance or other resources.

• #1 20-2327 – Metabolic disorders; medical foods; definitions

  https://www.azleg.gov/ars/20/02327.htm

  A. Any health benefits plan that is offered by an accountable health plan and that contains a prescription drug benefit shall provide coverage of medical foods to treat inherited metabolic disorders as provided by this section. […] C. Medical foods eligible for coverage under this section shall be prescribed or ordered under the supervision of a physician licensed pursuant to title 32, chapter 13 or 17 or a registered nurse practitioner who is licensed pursuant to title 32, chapter 15 as medically necessary for the therapeutic treatment of an inherited metabolic disease. […] D. An accountable health plan shall cover at least fifty per cent of the cost of medical foods prescribed to treat inherited metabolic disorders and covered pursuant to this section.

• #1

  https://www.aku.edu/news/Pages/News_Details.aspx?fbclid=IwAR3QNJwodQ4Y11K3hZTt-eNdYIocdwHH0lG5EsCinqvInznUkurB-EFuuG4&nid=NEWS-002461

  As much as 70 percent of the rare diseases in the world are due to genetic abnormalities, often leading to chronic disabilities later in life. Pakistan suffers from a high burden of such disorders due to prevalent practice of inter caste marriages, lack of awareness among people and non-availability of clinical metabolic services, said speakers at the launch of Ek-Sath, an initiative to bridge the disconnect between the public and health educationists about inherited metabolic disorders (IMDs). […] At AKU we strive to improve the diagnostics and management of children suffering from rare IMDs in the country by developing newborn screening programmes for prevention, said Dr Lena Jafri, section head of chemical pathology and assistant professor in the department of pathology and laboratory medicine. If diagnosed and treated early, IMD disorders can help prevent developmental delay and mental retardation in children.

• #1

  https://www.aku.edu/news/Pages/News_Details.aspx?fbclid=IwAR3QNJwodQ4Y11K3hZTt-eNdYIocdwHH0lG5EsCinqvInznUkurB-EFuuG4&nid=NEWS-002461

  „Apart from disease identification through correct diagnostic tests, another challenge to overcome in management of IMDs in Pakistan is by recognising families right to genetic counseling as part of the treatment plan,” said Dr Bushra Afroze, consultant metabolic physician and associate professor in the development of paediatrics and child health.

• #1

  https://journals.lww.com/10.1097/PHH.0000000000001250

  Newborn screening is a process identifying people with inherited metabolic disorders (IMDs) at birth, but these patients are often lost to follow-up, and limited data on their long-term needs are available to advocate for policies that will help this vulnerable community. […] To bridge these identified gaps, the 2009 research team recommended building partnerships to support follow-up and care coordination for IMD patients identified through NBS to ensure a sustainable diet for life. […] One of MNT4P’s goals is to identify barriers to access and collaborate with key stakeholders to overcome those barriers. The digital health footprint will assist in flagging these challenges on an individual patient level so that support and interventions can be offered swiftly to prevent adverse medical events and prevent patient loss to follow-up, as well as informing future prevention efforts.

• #1 UMD home page

  https://www.unitedformetabolicdiseases.nl/english/home.html

  Patients with an inherited metabolic disease deserve an early diagnosis as well as effective and optimal treatment. Detrimental effects of the disease can only be prevented or mitigated through individualized treatment and tailored care. […] UMD aims to improve diagnosis, prevention, treatment and care for patients and families with an inherited metabolic disease through UMD Catalyst Grants. […] United for Metabolic Diseases (UMD) is a unique, innovative and multidisciplinary collaboration with the common goal to perform innovative research in order to improve diagnosis, prevention, treatment and care for patients and families with an inherited metabolic disease.

• #1 Five questions about metabolic disorders – Metabolic disorders at the heart of Radio 3FM Serious Request – Radboudumc

  https://www.radboudumc.nl/en/news-items/2024/five-questions-about-metabolic-disorders

  From December 18 to 24, Radio 3FM Serious Request will take action for Metakids, a foundation supporting children with metabolic disorders, where the bodys metabolism doesn’t function properly. […] Given the rarity of these disorders, collaboration with other Dutch centers is essential. Radboudumc works closely with other university medical centers and patients within UMD. The goal is to improve diagnostics, prevention, treatment, and care for patients and families dealing with inherited metabolic disorders through innovative research.

• #1 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03602-w

  Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). […] A significant percentage of inborn errors of metabolism (IEMs) are curable. Therefore, timely and precise screening is essential to prevent or reduce the morbidity and mortality of these disorders before the onset of symptoms. […] Advances in diagnostic technologies, the growing recognition of the public health burden of inborn errors of metabolism (IEMs), and the cost-effectiveness of early detection further justify the need for expanded screening programs. […] The selection of the 20 metabolic disorders for screening is based on their prevalence in the region and the potential for early intervention to improve health outcomes.

• #1 Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03602-w

  The high prevalence of IMDs in Fars province underscores the critical need for strengthening healthcare infrastructure to address the burden of these disorders. This includes expanding neonatal screening programs, increasing access to genetic counseling services, and establishing specialized centers for the treatment and long-term management of metabolic diseases to improve health outcomes and reduce the socio-economic impact on affected families. […] Expanding newborn screening for IMDs across Iran and the Middle East is vital, as the findings from Fars province reveal a significantly higher prevalence than global averages. Early detection has proven to improve patient outcomes by reducing morbidity and mortality, emphasizing the need for comprehensive screening programs nationwide and in neighboring countries. […] Strengthening laboratory infrastructure, training healthcare providers, and establishing regional referral centers are critical first steps. Additionally, increasing public and stakeholder awareness through targeted education campaigns can foster community support and ensure program sustainability.

• #1 Metabolic Disorders | Riley Children’s Health

  https://www.rileychildrens.org/health-info/metabolic-disorders

  Most metabolic disorders are inherited conditions. […] Treatment for metabolic disorders may include genetic counseling, help with nutrition and diet and medicines. […] Most treatable metabolic conditions require special diets to ensure proper health and prevent complications. If your child has a metabolic disorder, he or she may be able to lead a normal, healthy life if diet is carefully controlled.

• #1 Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders

  https://www.cdc.gov/mmwr/preview/mmwrhtml/rr6102a1.htm

  Ensuring high-quality testing and achieving continuous quality improvement has been challenging for newborn screening laboratories as the number of inherited metabolic diseases that are included in newborn screening programs has continued to increase. […] Laboratories in the United States that test dried blood spot specimens have been voluntarily participating in the CDC Newborn Screening Quality Assurance Program (NSQAP), which enables newborn screening laboratories to meet the CLIA alternative performance assessment requirement for verifying test result accuracy at least twice per year. […] The recommendations in this report are intended to provide laboratory professionals and others with information to ensure and improve the quality of laboratory testing performed for screening, detection, diagnosis, monitoring, and clinical management of persons with inherited metabolic diseases.

• #2 Inherited metabolic disorders | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/inherited-metabolic-disorders?content_id=CON-20303979

  Inherited metabolic disorders are caused by changes in specific genes that affect metabolism. […] 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. […] In some cases, future parents may choose to have carrier testing before pregnancy, also called preconception screening. This test can identify some gene changes in parents that may increase the risk that future children will have certain types of inherited metabolic disorders. […] Life-long care with regular healthcare visits is important to take care of problems early and adjust treatment as needed.

• #2 Introduction to Inherited Disorders of Metabolism – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/introduction-to-inherited-disorders-of-metabolism

  All states in the United States routinely do neonatal screening of all newborns for specific inherited disorders of metabolism and other conditions, including phenylketonuria, tyrosinemia, biotinidase deficiency, homocystinuria, maple syrup urine disease, and galactosemia. […] Many states have an expanded screening program that covers many more inherited disorders of metabolism, including disorders of fatty acid oxidation and other organic acidemias.

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

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

  The state lab tests your child’s sample for over 40 diseases that may affect your baby’s health. If your child’s test appears abnormal, the state will notify the nearest Newborn Screening Referral Center. […] When that happens, the state newborn screening lab will request a second newborn screening test. Should the secondary tests’ results remain abnormal, the baby will then be referred to Mount Sinai Hospital.

• #2 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. […] 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. […] The care of patients with metabolic disorders can be complex. We have a dedicated educational program for your child and your family to teach you how to monitor your child, maintain an appropriate diet, know when to call for help, and understand what to do for your child in times of illness or in case of an emergency.

• #2 Inherited Metabolic Disorders | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/pediatrics/cancer-care/types/pediatric-blood-disorders/about-pediatric-blood-disorders/inherited-metabolic-disorders

  Inborn errors of metabolism are a diverse group of disorders caused by an inherited deficiency or defect in a single enzyme or protein. […] At MSK Kids, we understand how devastating it is to hear your child has one of these serious disorders, and we know you want to do everything you can to give your child the best life possible. […] Early diagnosis and monitoring are therefore very important. […] Treatment with a stem cell transplant early in life is the only way to stop the disease from progressing. […] When the disease is caught early, a bone marrow transplant can help prevent these effects. […] The MSK Kids team works together to diagnose these disorders and start treatment as early as possible.

• #2 Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01727-2

  The Treatable ID App is also part of the Treatable Intellectual Disability Endeavor (TIDE) diagnostic protocol. […] The same was shown in a prospective way, in our TIDE study which implemented the Treatable ID algorithm in 498 unexplained ID patients referred to a tertiary care centre (biochemical and clinical genetics as well as neurology departments) as add-on to clinical practice parameters at the time (2015). […] The ultimate goal of creating a Treatabolome database comprising rare disease treatments at gene and variant levels was recently outlined. […] The diagnostic algorithm as shown in Fig. 1 is our recommendation, based on the yield of metabolic tests combined in the tiers, as well as availability at most if not all metabolic laboratories. […] The updated Treatable ID App is designed to serve as an up-to-date, easily accessible and freely available digital tool for all clinicians and laboratory specialists evaluating children presenting with ID.

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