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1: J Inherit Metab Dis. 1984;7(1):21-6.Links

Malonyl coenzyme A decarboxylase deficiency.

Brown GK, Scholem RD, Bankier A, Danks DM.

A patient is described with a deficiency of the mitochondrial enzyme, malonyl CoA decarboxylase - an inborn error of metabolism not recognized previously. The enzyme defect was first suspected because of persistent excretion of malonic and methylmalonic acids in urine in a child with repeated episodes of vomiting, some requiring hospitalization. Disturbances of lipid metabolism were demonstrated.

PMID: 6145813 [PubMed - indexed for MEDLINE]