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

    Malonyl coenzyme A decarboxylase deficiency.

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

    Abstract

    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]

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