Article
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
Archives of neurology - 1 May 2001
Bodman M, Smith D, Nyhan W L, Naviaux R K
Abstract excerpt
BACKGROUND: Autosomal recessive inborn errors of metabolism often present as life-threatening disease in infancy and have adverse effects on the nervous system. Parents are usually heterozygotes. This is true of most disorders of fatty acid oxidation, which are rare and present with hypoketotic hypoglycemia. However, the gene for medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency is common in white...
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