GENETIC ENCYCLOPEDIA
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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, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with hypoketotic hypoglycemia, vomiting, and lethargy triggered by a common illness. Seizures may occur. Hepatomegaly and liver disease are often present during an acute episode, which can quickly progress to coma and death. Children are normal at birth and – if not identified through newborn screening – typically present between ages three and 24 months; later presentation, even into adulthood, is possible. The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period 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.216+2T>G AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
NM_000016.5(ACADM):c.977T>C (p.Met326Thr) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
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