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Case Reports
. 1979 Oct;132(2):107-14.
doi: 10.1007/BF00447377.

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

W Lehnert, H Niederhoff, A Junker, H Saule, W Frasch
Case Reports

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

W Lehnert et al. Eur J Pediatr. 1979 Oct.

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 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.

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References

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