Medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

Cyanosis

Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

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PMID (PMCID)
3389476	MALE
	Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
	Nobukuni Y, Yokoo T, Ohtani Y, Endo F, Aoki S, Yoshinaga M, Matsumoto T, Yoshimoto M, Tsuji Y, Matsuda I. Brain Dev. 1988;10(2):129-34.
	Two male siblings with medium-chain acyl-CoA dehydrogenase deficiency were reported, in whom the enzyme activity was essentially undetectable and the symptoms and signs, including cyanosis, apnea, low body temperature, hypoglycemia and hyperammonemia, appeared within 48 hours of life.