Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.
D000592:Amino Acid Metabolism, Inborn Errors / Q000628:therapy / Q000652:urine; D001710:Biotin / Q000627:therapeutic use; D001996:Bronchopneumonia / Q000150:complications; D002087:Butyrates / Q000652:urine; D002245:Carbon Dioxide; D019735:Carbon-Carbon Ligases; D002849:Chromatography, Gas; D004035:Diet Therapy; D005260:Female; D005998:Glycine / Q000652:urine; D006801:Humans; D007223:Infant; D007930:Leucine / Q000378:metabolism*; D008025:Ligases; D013058:Mass Spectrometry; D009461:Neurologic Manifestations; D009812:Odorants; D000439:Pentanols / Q000652:urine; D014631:Valerates / Q000652:urine
D002087:Butyrates; D000439:Pentanols; D014631:Valerates; D002245:Carbon Dioxide; D001710:Biotin; D008025:Ligases; D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D007930:Leucine; D005998:Glycine