title: Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
abstract: Vomiting, lethargy and metabolic acidosis were the main initial symptoms of metabolic disease in a 1 month old girl. Her older sister had died from a similar disease, considered to be Reye's syndrome, at an age of 15 months. The urine of the present case contained 2-methylcitric acid, 3-hydroxypropionic acid, N-propionylglycine, 2-hydroxy-3-methylbutyric acid, N-tiglylglycine, 3-hydroxyvaleric acid and glutaric acid. These metabolites are all known to be associated with propionyl-CoA accumulation. Free propionic acid was not detected in the urine. In addition, the urine contained 3-oxo-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid, probably formed by condensation of two molecules of propionyl-CoA. The identity of these metabolites was confirmed by synthesis. An elevated urinary concentration of maleic acid and fumaric acid was another constant abnormality. The activity of propionyl-CoA carboxylase in leucocytes was about 20% of the normal activity. The girl was teated with a low-protein diet since the diagnosis was made at an age of 1 month, and her psychomotor development was satisfactory at an age of 2 1/2 years. She had a few episodes of acidosis during infections.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism*; D001710:Biotin / Q000008:administration & dosage; D002208:Caproates / Q000652:urine; D002262:Carboxy-Lyases / Q000172:deficiency*; D004044:Dietary Proteins / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D007223:Infant; D007231:Infant, Newborn; D007651:Keto Acids / Q000652:urine*; D007962:Leukocytes / Q000201:enzymology; D008298:Maleates / Q000652:urine*; D043586:Methylmalonyl-CoA Decarboxylase; D010421:Pentanoic Acids / Q000652:urine*; D011422:Propionates / Q000097:blood / Q000172:deficiency; D012202:Reye Syndrome / Q000175:diagnosis; D014631:Valerates / Q000652:urine*
chemical_list: C021047:3-keto-2-methylvaleric acid; D002208:Caproates; D004044:Dietary Proteins; D006880:Hydroxy Acids; D007651:Keto Acids; D008298:Maleates; D010421:Pentanoic Acids; D011422:Propionates; D014631:Valerates; C032971:4-hydroxyhexanoic acid; C021041:3-hydroxy-2-methylvaleric acid; D001710:Biotin; C030272:maleic acid; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase