Malonyl coenzyme A decarboxylase deficiency.
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.
D000214:Acyl Coenzyme A / Q000378:metabolism*; D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D064429:Fatty Acid Synthases / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008314:Malonates / Q000378:metabolism; D008316:Malonyl Coenzyme A / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008764:Methylmalonic Acid / Q000652:urine; D008765:Methylmalonyl-CoA Mutase / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology
D000214:Acyl Coenzyme A; D008314:Malonates; D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; C030290:malonic acid; D064429:Fatty Acid Synthases; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase; D008765:Methylmalonyl-CoA Mutase