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Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

Journal of inherited metabolic disease - 1 Dec 2009

Ye J, Wang T, Han L S, Qiu W J, Zhang H W, Zhang Y F, Gao X L, Wang Y, Gu X F

Abstract excerpt

OBJECTIVE: To report the clinical course and explore the gene mutation spectrum of four Chinese children with biotinidase deficiency. METHODS: Four Chinese patients aged 4 months to 8 years were referred to this study. Tandem mass spectrometry, gas chromatography-mass spectrometry and the determination of biotinidase activities were performed for selective screening of biotinidase deficiency. Four patients with...

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PMID: 19728141
DOI: 10.1007/s10545-009-1238-1

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