Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
The abnormal metabolites 3-hydroxypropionic acid (1.6-4.0 mg/day) and methylcitric acid (3.7-5.8 mg/day) were identified and quantitated in the urine of a patient in whom biotin-responsive 3-methylcrotonylglycinuria and deficiency of 3-methylcrotonyl-CoA carboxylase had previously been documented. The level of excretion of these metabolites was in the lower range of those found in patients with propionic acidemia in whom there is a deficiency of propionyl-CoA carboxylase. The activity of this enzyme in fibroblasts derived from the patient and grown in media low in biotin was 4% of normal. This is the range of patients with propionyl-CoA carboxylase deficiency. Documented deficiency in this patient of two carboxylase, both of which contain biotin, suggests that the primary defect is in the metabolism of biotin.
D001710:Biotin / Q000378:metabolism / Q000627:therapeutic use; D002262:Carboxy-Lyases / Q000172:deficiency*; D002951:Citrates / Q000652:urine; D003404:Creatinine / Q000652:urine; D003437:Crotonates / Q000652:urine; D005347:Fibroblasts / Q000201:enzymology; D005998:Glycine / Q000652:urine*; D006801:Humans; D007223:Infant; D007930:Leucine / Q000378:metabolism; D008297:Male; D011422:Propionates / Q000652:urine; D000608:Renal Aminoacidurias / Q000201:enzymology* / Q000652:urine
D002951:Citrates; D003437:Crotonates; D011422:Propionates; D001710:Biotin; D003404:Creatinine; D002262:Carboxy-Lyases; D007930:Leucine; D005998:Glycine