A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.
During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2 x 5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy; D001710:Biotin / Q000378:metabolism / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D007930:Leucine / Q000378:metabolism*; D009123:Muscle Hypotonia / Q000150:complications; D012640:Seizures / Q000150:complications
D001710:Biotin; D007930:Leucine