ISSN:
1432-1076
Keywords:
3-Methylcrotonylglycin- and 3-hydroxyisovaleric aciduria
;
3-Methylcrotonyl-CoA carboxylase deficiency
;
Organic acidurias
;
Biotinresponsive organic aciduria
;
Convulsions due to metabolic disorders
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00447377
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