Malonic aciduria

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

Metabolic acidosis

Acid accumulation or depletion of base in the body due to buildup of metabolic acids.


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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.