medium-chain acyl-CoA dehydrogenase deficiency


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medium-chain acyl-CoA dehydrogenase deficiency

the most common fatty acid oxidation disorder, presenting as acute episodes triggered by prolonged fasting for more than 12-16 hours, with hypoglycemia, vomiting, and lethargy, which may progress to seizures, coma, or cardiopulmonary collapse, usually presenting before age 3.

medium-chain acyl-CoA dehydrogenase deficiency

Abbreviation: MCADD
An inherited disorder of faulty nutrient oxidation in which affected infants are unable to metabolize fatty acids when their stores of blood glucose are low, e.g., between meals. The disease is common, occurring in 1 in 10,000 infants, and often fatal in infancy. Surviving infants may suffer brain damage from inadequate nutrition to the central nervous system during fasts.
See also: deficiency
References in periodicals archive ?
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Blood spots have also been used for screening patients at risk for mitochondrial disorders such as medium-chain acyl-CoA dehydrogenase deficiency (19,20) and Pearson syndrome, a multisystem juvenile disorder associated with deletions in the mitochondrial genome (21).
Frequency of the medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in SIDS.

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