Eur J Pediatr. 1979 Oct;132(2):107-14.

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

Lehnert W, Niederhoff H, Junker A, Saule H, Frasch W.

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.

PMID:: 499258; [PubMed - indexed for MEDLINE]

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[Convulsions in an infant with biotin-dependent 3-methylcrotonylglycinuria]. [Monatsschr Kinderheilkd. 1980]
[Convulsions in an infant with biotin-dependent 3-methylcrotonylglycinuria].
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Cited by 4 PubMed Central articles

Inherited disorders of 3-methylcrotonyl CoA carboxylation. [Arch Dis Child. 1981]
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Leonard JV, Seakins JW, Bartlett K, Hyde J, Wilson J, Clayton B. Arch Dis Child. 1981 Jan; 56(1):53-9.
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. [Am J Hum Genet. 1982]
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
Saunders ME, Sherwood WG, Duthie M, Surh L, Gravel RA. Am J Hum Genet. 1982 Jul; 34(4):590-601.
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Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
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