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.
MeSH terms
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Acyl Coenzyme A / metabolism*
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Carboxy-Lyases / deficiency*
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Child, Preschool
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Fatty Acid Synthases / metabolism
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Fibroblasts / enzymology
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Humans
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Male
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Malonates / metabolism
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Malonyl Coenzyme A / metabolism*
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Metabolism, Inborn Errors / enzymology*
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Methylmalonic Acid / urine
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Methylmalonyl-CoA Mutase / metabolism
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Mitochondria / enzymology
Substances
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Acyl Coenzyme A
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Malonates
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Malonyl Coenzyme A
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Methylmalonic Acid
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malonic acid
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Fatty Acid Synthases
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Carboxy-Lyases
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malonyl-CoA decarboxylase
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Methylmalonyl-CoA Mutase