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disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency

id81
nameMedium-chain acyl-coenzyme A dehydrogenase deficiency
descriptionMedium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid β-oxidation. Fatty acid β-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. MCAD deficiency is the most common disorder of fatty acid β-oxidation and one of the most common inborn errors of metabolism. Most children are now diagnosed through newborn screening. Clinical symptoms in a previously apparently healthy child with MCAD deficiency include hypoketotic hypoglycemia and vomiting that may progress to lethargy, seizures, and coma triggered by a common illness. Hepatomegaly and liver disease are often present during an acute episode. Children appear normal at birth and – if not identified through newborn screening – typically present between age three and 24 months, although presentation even as late as adulthood is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged periods of fasting.
variant-disease NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NM_000016.5(ACADM):c.842G>C (p.Arg281Thr) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NM_000016.5(ACADM):c.666C>A (p.Phe222Leu) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NC_000001.10:g.(?_76007120)_(76540569_?)del AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
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