Abstract
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 (2×5 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.
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Lehnert, W., Niederhoff, H., Junker, A. et al. A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria. Eur J Pediatr 132, 107–114 (1979). https://doi.org/10.1007/BF00447377
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DOI: https://doi.org/10.1007/BF00447377