Materiały źródłowe

• #1 MCAD deficiency – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/diagnosis-treatment/drc-20353747

  MCAD deficiency is diagnosed through newborn screening followed by genetic testing. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #1 Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=9505

  Newborns suspected to have MCADD based on clinical features or by tandem mass spectroscopy findings. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACADM. […] If MCADD is diagnosed early, most mortality and morbidity can be prevented through relatively simple measures, such as frequent feedings to avoid any extended periods of fasting (Wilcken et al. Lancet 369:37-42, 2007). […] Medium chain acyl-CoA dehydrogenase deficiency (MCADD, OMIM #201450) is a defect in the catabolism of fatty acids within the mitochondria.

• #1 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder. The frequency of milder developmental delay is more difficult to assess but is of concern to parents and poses costs to the affected individuals, families, and society. […] These estimates can be used to calculate the number needed to screen to prevent one case of death or serious disability. Taking into account an expected prevalence of 1 in 17,000, 70,000 to 80,000 children would need to be screened for MCADD to prevent one case of death or serious disability. At the national level, screening 4 million U.S. births per year could prevent 50 to 60 premature deaths or cases of disability, assuming strict adherence to disease-management guidelines by both parents and providers, access to comprehensive care and health insurance, and a prompt and efficient system of reporting and follow-up.

• #1 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  MCAD deficiency is an inherited disorder that prevents your body from breaking down certain fats and turning them into energy. […] Prevention and prompt treatment are essential regardless of blood sugar level. If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. To maintain blood sugar levels and avoid hypoglycemia: Infants require frequent feedings that include getting enough calories from complex carbohydrates. Children and adults need to get enough complex carbohydrates on a regular schedule of meals and snacks.

• #1 MCAD deficiency // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/mcad-deficiency

  MCAD deficiency is present from birth and is a lifelong condition. […] Prevention and prompt treatment are essential regardless of blood sugar level. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #1 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/%20https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #1 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. Know the warning signs of low blood sugar and other symptoms of a metabolic crisis.

• #1 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  MCAD deficiency is a genetic disorder caused by changes in the ACADM gene. […] Treatment focuses on helping your child maintain normal blood sugar levels by eating regular healthy meals. […] This may include: […] Eating more often throughout the day, especially during times of increased energy usage […] Avoiding fasting for long periods of time […] Eating a diet high in carbohydrates and low in fat […] Avoiding over-exertion when your child is sick or recovering from sickness or surgery. […] Treatment also includes avoiding: […] Foods that include coconut oil, which primarily contain medium-chain fats […] High-fat diets (such as those found in the ketogenic diet) […] Alcohol. […] All of these can negatively affect a child with MCAD deficiency. […] If left untreated or not treated promptly and properly, MCAD deficiency can lead to brain injury, developmental delays, attention-deficit disorder, muscle weakness, reduced exercise tolerance, irregular heartbeats (cardiac arrhythmia), low blood sugar (hypoglycemia), liver disease, kidney disease and, in rare cases, sudden and unexpected death.

• #1

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Medium chain acyl CoA dehydrogenase deficiency (MCADD) is caused by mutations in the medium chain acyl CoA dehydrogenase (MCAD) gene leading to insufficient enzymatic activity to allow complete mitochondrial beta oxidation of fatty acids. […] The primary intervention goal for MCADD individuals is to avoid situations in which the cells must rely solely on stored fats for energy (i.e., avoid fasting). […] Acute illness is often the cause of metabolic decompensation due to poor intake and increased energy demands. […] Families should be provided with an emergency protocol/letter that can be carried with them at all times. […] A concentrated glucose source should be available at all times to be used to treat hypoglycemia until emergency care can be accessed. […] The frequency of feeding for an MCADD infant, who is well, should be no different than that for a non-MCADD infant.

• #1 Medium-chain acyl-CoA dehydrogenase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). […] Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. […] The condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

• #1

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] Illness increases caloric demands, while at the same time poor appetite and/or vomiting and diarrhea may limit intake. […] It is imperative that caregivers understand the importance of immediate and decisive action when the MCADD individual is ill and not capable of sufficient oral intake. […] The use of a concentrated oral glucose source may be lifesaving while awaiting emergency care. […] Fasting before surgical procedures and during recovery puts an MCADD individual at risk. […] During pregnancy, plasma free carnitine levels will decline. […] The individual with MCADD and/or the caregiver will understand the importance of avoiding fasting and eating meals on a regular schedule.

• #1 Internet Scientific Publications

  https://ispub.com/IJA/21/1/12811

  In the peri-anaesthetic setting, the main considerations are the accompanying starvation state, the deranged metabolic responses to surgical stress, the morbidity of pre-existing multisystem involvement by the disease, and the safety of pharmacological agents employed during anesthesia. […] Every effort must be made to minimize the duration of fasting with intensive perioperative monitoring of glycemia and prompt management of hypoglycemia if it occurs. […] Prophylactic anti-emetics with intravenous glucose supplements and close monitoring of capillary glucose values well into the postoperative period is crucial until oral feeding is effectively established. […] Our case-report illustrates that relatively simple measures such as preoperative evaluation of hepatic, neurological, muscular, and cardiac function, with diligent monitoring of glycemia can prevent catastrophic episodes and lead to a successful anesthetic outcome.

• #1 Study of Triheptanoin for the Prevention of Hypoglycemia in Patients with Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT06067802/study-of-triheptanoin-for-the-prevention-of-hypoglycemia-in-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd

  A diagnosis of MCAD deficiency with molecular confirmation. […] Previous research suggests that triheptanoin may also be effective in the treatment MCADD. […] The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders.

• #1 Lake Clinical Trials

  https://mentalhealth.networkofcare.org/Lake/CommunityResources/ClinicalTrials?keyword=%22Medium%20Chain%20Acyl%20CoA%20Dehydrogenase%20Deficiency%22

  Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) […] This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD. […] Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) […] Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. […] Use of Ravicti in Patients With MCAD Deficiency With the 985AG (K304E) Mutation […] Previous research suggests that Ravicti may also be effective in the treatment MCAD deficiency. This study will investigate the safety and efficacy (how well it works) of Ravicti in patients with MCAD deficiency caused by having at least one copy of the 985A\G mutation.

• #1 MCAD Deficiency

  https://my.clevelandclinic.org/health/diseases/21973-mcad-deficiency

  There’s no way to prevent MCAD deficiency because it’s a genetic condition that passes from parents to children. To understand your risk of passing a genetic condition onto your child, visit your healthcare provider for genetic testing before you plan on becoming pregnant. […] People diagnosed with MCAD deficiency can live normal and healthy lives when accompanied by diet and lifestyle changes to avoid symptoms. Since MCAD deficiency is a genetic condition that passes from parents to children, if you plan on becoming pregnant, talk with your healthcare provider about genetic testing to understand the risks of passing the condition onto your child.

• #1 MCAD Deficiency: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/mcad-overview-4175022

  Medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency) is a rare and potentially serious inherited condition that affects the body’s ability to convert a certain fat into energy. […] Today, testing for MCAD deficiency is part of standard newborn screenings in the United States. When diagnosed promptly, MCAD deficiency can be treated and the child can expect to live a normal life expectancy. […] The primary way to treat MCAD deficiency is to avoid prolonged fasting and ensure proper nutrition. Parents will be given strict instructions about feeding to prevent any long periods of fasting. […] In addition to ensuring appropriate nutrition, strict adherence to a regular feeding schedule will need to begin from the time of diagnosis. […] If MCAD deficiency is properly managed, a person can live a long and healthy life. However, if left undiagnosed and untreated, the risk of death is estimated to be around 20%. Most deaths occur during early childhood. […] People with MCAD deficiency usually need to adhere to a diet that is high in carbohydrates and low in fat. They also need to avoid long periods of fasting. If properly managed, most people with MCAD deficiency can lead normal, healthy lives.

• #1 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  Information on long-term outcomes in children with MCADD detected through newborn screening is still lacking. However, there are indications that the risk of mortality after newborn screening for MCADD is real. A recent report from Germany examined the outcomes of 29 patients detected by screening who were homozygous for the A985G mutation. Unfortunately, two patients died at 10 months of age, despite knowledge of the MCADDD diagnosis. Long-term follow-up investigations in New England have likewise revealed two deaths among children identified by newborn screening whose MCADD diagnoses were confirmed by metabolic specialists (number of children diagnosed is not reported); the details of the circumstances of these deaths are under investigation (personal communication, New England Newborn Screening Program).

• #2 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  MCAD deficiency is an inherited disorder that prevents your body from breaking down certain fats and turning them into energy. […] Prevention and prompt treatment are essential regardless of blood sugar level. If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. To maintain blood sugar levels and avoid hypoglycemia: Infants require frequent feedings that include getting enough calories from complex carbohydrates. Children and adults need to get enough complex carbohydrates on a regular schedule of meals and snacks.

• #2 MCAD deficiency – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/symptoms-causes/syc-20353745

  MCAD deficiency can cause problems with your metabolism. […] Prevention and prompt treatment are essential regardless of blood sugar level. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle.

• #2

  https://link.springer.com/article/10.1007/s00431-022-04421-y

  Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial -oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. […] Introduction of tandem mass spectrometry-based newborn screening programs in the late 1990s has significantly reduced morbidity and mortality in MCAD deficiency; however, neonatal death in individuals with early disease manifestation and severe hypoglycemia may still occur. […] Early newborn screening and awareness for clinical symptoms is lifesaving in MCAD deficiency, which may present with fatal neonatal crisis. Systematic post-mortem diagnostic protocols are needed for sudden neonatal deaths. […] Preventive measures, such as avoidance of fasting and use of emergency plans to provide carbohydrates orally or intravenously during catabolism, give these patients a favorable long-term outcome.

• #2 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. Know the warning signs of low blood sugar and other symptoms of a metabolic crisis.

• #2 MCAD deficiency – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/mcad-deficiency/

  MCAD deficiency can cause problems with your metabolism. […] Prevention and prompt treatment are essential regardless of blood sugar level. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. To maintain blood sugar levels and avoid hypoglycemia: Infants require frequent feedings that include getting enough calories from complex carbohydrates. Children and adults need to get enough complex carbohydrates on a regular schedule of meals and snacks.

• #2 MCAD deficiency – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/mcad-deficiency/

  Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #2

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] Illness increases caloric demands, while at the same time poor appetite and/or vomiting and diarrhea may limit intake. […] It is imperative that caregivers understand the importance of immediate and decisive action when the MCADD individual is ill and not capable of sufficient oral intake. […] The use of a concentrated oral glucose source may be lifesaving while awaiting emergency care. […] Fasting before surgical procedures and during recovery puts an MCADD individual at risk. […] During pregnancy, plasma free carnitine levels will decline. […] The individual with MCADD and/or the caregiver will understand the importance of avoiding fasting and eating meals on a regular schedule.

• #2 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications

  https://emedicine.medscape.com/article/946755-followup

  Strategies include the following: […] Avoidance of fatty foods […] Early treatment and blood glucose support during intercurrent illness.

• #2 Internet Scientific Publications

  https://ispub.com/IJA/21/1/12811

  Medium chain acyl CoA dehydrogenase (MCAD) deficiency is the most common disorder of beta-oxidation of fatty acids. […] The enhanced recognition of heterozygous patients and the effective management of their metabolic milieu are likely to increase the prevalence of MCAD deficiency in the adult population, which will result in more adult patients with MCAD deficiency as a co-morbidity presenting for surgery. […] The disease has significant perioperative implications, and awareness about the condition and simple measures can significantly affect outcome. […] Effective prevention of acute episodes depends on maintaining a high carbohydrate, low-fat diet and avoiding starvation. Dextrose supplementation during anticipated periods of stress or fasting can help to prevent the triggering of an acute episode.

• #2 MCAD deficiency | Altru Health System

  https://www.altru.org/health-library/conditions/mcad-deficiency

  Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #2 Lake Clinical Trials

  https://mentalhealth.networkofcare.org/Lake/CommunityResources/ClinicalTrials?keyword=%22Medium%20Chain%20Acyl%20CoA%20Dehydrogenase%20Deficiency%22

  Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) […] This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD. […] Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) […] Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. […] Use of Ravicti in Patients With MCAD Deficiency With the 985AG (K304E) Mutation […] Previous research suggests that Ravicti may also be effective in the treatment MCAD deficiency. This study will investigate the safety and efficacy (how well it works) of Ravicti in patients with MCAD deficiency caused by having at least one copy of the 985A\G mutation.

• #2 Lake Clinical Trials

  https://mentalhealth.networkofcare.org/Lake/CommunityResources/ClinicalTrials?keyword=%22Medium%20Chain%20Acyl%20CoA%20Dehydrogenase%20Deficiency%22

  The appointment of a special treatment (diet therapy, cofactors, enzyme replacement therapy) prevents or significantly inhibits the development of the pathological process, especially if the diagnosis is made in the early stages of the disease. […] To start pathogenetic treatment as early as possible, it is necessary to diagnose IEM as accurately and as early as possible. […] The main goals of mass screening – the prevention of disability in children and the reduction of early infant mortality – dictate the need to introduce modern technologies for preclinical diagnosis of IEM. […] Based on the results of the study, it is planned to scientifically substantiate the need for the introduction of selective screening of children for hereditary metabolic diseases using the technology of tandem mass spectrometry in the Republic of Kazakhstan for timely diagnosis, therapy of IEM and prevention of disability.

• #2 Medium-chain acyl-CoA dehydrogenase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). […] Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. […] The condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

• #2 Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=9505

  Newborns suspected to have MCADD based on clinical features or by tandem mass spectroscopy findings. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACADM. […] If MCADD is diagnosed early, most mortality and morbidity can be prevented through relatively simple measures, such as frequent feedings to avoid any extended periods of fasting (Wilcken et al. Lancet 369:37-42, 2007). […] Medium chain acyl-CoA dehydrogenase deficiency (MCADD, OMIM #201450) is a defect in the catabolism of fatty acids within the mitochondria.

• #2 MCAD Deficiency: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/mcad-overview-4175022

  Medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency) is a rare and potentially serious inherited condition that affects the body’s ability to convert a certain fat into energy. […] Today, testing for MCAD deficiency is part of standard newborn screenings in the United States. When diagnosed promptly, MCAD deficiency can be treated and the child can expect to live a normal life expectancy. […] The primary way to treat MCAD deficiency is to avoid prolonged fasting and ensure proper nutrition. Parents will be given strict instructions about feeding to prevent any long periods of fasting. […] In addition to ensuring appropriate nutrition, strict adherence to a regular feeding schedule will need to begin from the time of diagnosis. […] If MCAD deficiency is properly managed, a person can live a long and healthy life. However, if left undiagnosed and untreated, the risk of death is estimated to be around 20%. Most deaths occur during early childhood. […] People with MCAD deficiency usually need to adhere to a diet that is high in carbohydrates and low in fat. They also need to avoid long periods of fasting. If properly managed, most people with MCAD deficiency can lead normal, healthy lives.

• #2 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The reduced ability to metabolize medium-chain fatty acids becomes problematic when individuals are faced with extra metabolic demands or reduced dietary inputs. Most often, stress induced by fasting or infection, during which the demands on fatty acid oxidation are particularly high, leads to symptomatic presentation. Lengthy fasting or the presence of infection or recent immunization typically precedes metabolic crises in MCADD. […] It is widely believed that adverse outcomes in MCADD can largely be prevented through avoidance of fasting, along with close attention by parents and clinicians during periods of infection and after immunizations. Energy-containing drinks should be consumed during periods of infection and anorexia. Hospitalization for administration of intravenous fluids is required if oral feeding attempts are unsuccessful. The only deaths after diagnosis of MCADD that have been reported in the published literature from the United States occurred in children in whom the diagnosis was made late or disease-management guidelines were not necessarily followed.

• #3 MCAD deficiency | Altru Health System

  https://www.altru.org/health-library/conditions/mcad-deficiency

  MCAD deficiency is an inherited disorder that prevents your body from breaking down certain fats and turning them into energy. […] Prevention and prompt treatment are essential regardless of blood sugar level. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team.

• #3

  https://link.springer.com/article/10.1007/s10545-007-0492-3

  The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005. […] In newborns with blood octanoylcarnitine (C8:0) concentrations 0.3 mol/L, clinical and laboratory follow-up was initiated, including MCAD enzymatic measurements which played a decisive role. […] Measurement of MCAD activity using phenylpropionyl-CoA as a substrate further discriminated between newborns with MCAD deficiency and so-called mild MCAD deficiency. […] To summarize, neonatal screening for MCAD deficiency in the northern part of The Netherlands resulted in the predicted number of affected newborns. Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results.

• #3 MCAD deficiency – Hancock Health

  https://www.hancockhealth.org/mayo-health-library/mcad-deficiency/

  Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #3 MCAD deficiency

  https://www.mymlc.com/health-information/diseases-and-conditions/m/mcad-deficiency/

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by hypoglycemia from occurring. Infants with MCAD deficiency require frequent feedings with adequate calories from complex carbohydrates to maintain blood sugar and avoid hypoglycemia. […] Recommendations to prevent hypoglycemia generally include: Avoid fasting longer than recommended by your health care team, Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs, Choose foods that are high in complex carbohydrates and lower in fat, Increase calories by eating extra complex carbohydrates during illness, stress or increased activity.

• #3 Mcad Deficiency – Causes, Symptoms, Diagnosis, and Treatment

  https://www.apollohospitals.com/diseases-and-conditions/mcad-deficiency

  Strategies for Prevention […] While MCAD deficiency cannot be prevented, certain strategies can help reduce the risk of complications: […] – Genetic Counseling: Families with a history of MCAD deficiency may benefit from genetic counseling to understand their risks and options. […] […] – Dietary Modifications: Maintaining a balanced diet rich in carbohydrates and low in fats can help prevent metabolic crises. […] […] – Vaccinations: Staying up to date with vaccinations can help prevent infections that may trigger metabolic crises.

• #3 Internet Scientific Publications

  https://ispub.com/IJA/21/1/12811

  In the peri-anaesthetic setting, the main considerations are the accompanying starvation state, the deranged metabolic responses to surgical stress, the morbidity of pre-existing multisystem involvement by the disease, and the safety of pharmacological agents employed during anesthesia. […] Every effort must be made to minimize the duration of fasting with intensive perioperative monitoring of glycemia and prompt management of hypoglycemia if it occurs. […] Prophylactic anti-emetics with intravenous glucose supplements and close monitoring of capillary glucose values well into the postoperative period is crucial until oral feeding is effectively established. […] Our case-report illustrates that relatively simple measures such as preoperative evaluation of hepatic, neurological, muscular, and cardiac function, with diligent monitoring of glycemia can prevent catastrophic episodes and lead to a successful anesthetic outcome.

• #3 MCAD deficiency | Altru Health System

  https://www.altru.org/health-library/conditions/mcad-deficiency

  Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency.

• #3 Diagnosis and Discussion — Case 1076

  https://path.upmc.edu/cases/case1076/dx.html

  MCAD deficiency can cause severe metabolic derangement along with hypoglycemia. During a decompensation event, IV administration of glucose (bolus followed by continuous infusion) should be initiated immediately, and a glucose level between 120-170 mg/dL is recommended to achieve and maintain. The mainstay of prevention is avoiding fasting with frequent feedings at specific intervals; for example infants feeding should be at every 2-3 hours. A majority of literature support L-carnitine supplementation when the blood carnitine level is low; and it has been found to improve exercise tolerance.

• #3 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Canine Genetic Testing

  https://www.cagt.co.uk/product/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency/

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty-acid oxidation disorder. […] While the disease can result in coma and even death, it can also be managed successfully with medication and dietary and lifestyle changes, especially if diagnosed early. […] Breeding dogs that will not develop MCAD Deficiency should be the breeders priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target. […] Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.

• #3 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  Information on long-term outcomes in children with MCADD detected through newborn screening is still lacking. However, there are indications that the risk of mortality after newborn screening for MCADD is real. A recent report from Germany examined the outcomes of 29 patients detected by screening who were homozygous for the A985G mutation. Unfortunately, two patients died at 10 months of age, despite knowledge of the MCADDD diagnosis. Long-term follow-up investigations in New England have likewise revealed two deaths among children identified by newborn screening whose MCADD diagnoses were confirmed by metabolic specialists (number of children diagnosed is not reported); the details of the circumstances of these deaths are under investigation (personal communication, New England Newborn Screening Program).

• #4 MCAD deficiency

  https://www.mymlc.com/health-information/diseases-and-conditions/m/mcad-deficiency/

  Parent and family understanding of the condition is critical to ongoing care and prevention of hypoglycemia episodes and complications. Prevention tips include: Avoid fasting, Know the warning signs of hypoglycemia and treat it immediately, Eat complex carbohydrates before extra activity or exercise, Increase calories with extra complex carbohydrates during illness, stress or increased activity, Always carry complex carbohydrate snacks, Always carry a source of simple carbohydrates to treat hypoglycemia.

• #4 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

  https://www.health.wa.gov.au/Articles/U_Z/WA-Newborn-Bloodspot-Screening-Program/Conditions-screened-for-in-WA/MCAD-deficiency

  MCAD deficiency is a fatty acid oxidation disorder. […] It is important to diagnose and treat these children early. […] Treatment includes avoidance of fasting, particularly when sick. […] IV glucose during illness is also recommended.

• #4 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  Severe metabolic crises sometimes occur before the reporting of screening results, further reducing the number of preventable deaths resulting from newborn screening. Pollitt and Leonard reported one neonatal death in an infant whose older sibling had already been diagnosed with MCADD. Among 23 infant deaths with MCADD detected by postmortem MS/MS analysis, 3 occurred during the first 7 days of life. Presumably, these deaths could not have been averted by newborn screening. On the other hand, early neonatal deaths with MCADD might be preventable through increased clinical awareness of fatty acid oxidation disorders, which can occur as a result of their inclusion in newborn screening panels. […] Studies of screened cohorts with MCADD have reported no neurologic impairments. However, none of these studies administered a validated test of general cognitive ability required to classify intellectual disability. One study assessed 20 children with MCADD identified through newborn screening from 5 to 29 months of age, with a median age of 9 months. None of the children with MCADD had mental index scores below the normal range. However, a conclusive assessment of the effects of early identification of MCADD on cognitive ability will require considerably longer follow-up.

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