Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

NIH Rare Diseases:⁴⁸ Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet. Last updated: 7/7/2014

MalaCards based summary: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium chain, deficiency of and sudden infant death syndrome, and has symptoms including hepatomegaly, hepatomegaly and lethargy. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain). Affiliated tissues include liver.

Genetics Home Reference:²⁵ 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).

GeneReviews for NBK1424

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