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 ?
Medium-chain acyl-CoA dehydrogenase deficiency found through newborn screening by tandem mass spectrometry in Japan.
For example, one of the disorders included in the expanded panel, medium-chain acyl-CoA dehydrogenase deficiency (MCAD), involves a simple treatment (i.
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-CoA dehydrogenase deficiency.
Finally, by analogy with fatty acid oxidation disorders such as medium-chain acyl-CoA dehydrogenase deficiency (13), one may conclude that knowledge of the diagnosis will improve outcome because early intervention is then possible in catabolic episodes that otherwise may lead to metabolic derangement.

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