A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria

✍ Scribed by W. Lehnert; H. Niederhoff; A. Junker; H. Saule; W. Frasch

• Book ID: 104778244
• Publisher: Springer
• Year: 1979
• Tongue: English
• Weight: 603 KB
• Volume: 132
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00447377

✦ Synopsis

During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3methylcrotonylglycin 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 • 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.