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Article

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Molecular genetics and metabolism - 1 Sept 2010

Yusupov Roman, Finegold David N, Naylor Edwin W, Sahai Inderneel, Waisbren Susan, Levy Harvey L

Abstract excerpt

INTRODUCTION: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent of the fatty acid oxidation disorders (FAOD), a group caused by defects in the mitochondrial B-oxidation of fatty acids. Fatty acid oxidation is critical in supplying energy during periods when glucose is limited or when energy needs are increased beyond the availability of glucose. In MCADD, this energy shortage can result...

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PMID: 20580581
DOI: 10.1016/j.ymgme.2010.05.007

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Source receipt: pubmed, retrieved 7 Sept 2026.

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