Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Hypoglycemia

A decreased concentration of glucose in the blood.

Total: 1

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PMID (PMCID)
9869665	MALE	Infant
	Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
	Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC. J Lipid Res. 1999;40(1):178-82.
	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria.