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Article

Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

The Korean journal of laboratory medicine - 1 Jan 2011

Woo Hye In, Park Hyung-Doo, Lee Yong-Wha, Lee Dong Hwan, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is...

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Identifiers

PMID: 21239873
DOI: 10.3343/kjlm.2011.31.1.54
PMCID: PMC3111034

Genes

ACADM

Variants

Provenance

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