Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: Clinical, biochemical, and molecular genetic aspects

R. Santer, H. Muhle, T. Suormala, E. R. Baumgartner, M. Duran, X. Yang, Y. Aoki, Y. Suzuki, U. Stephani

研究成果: ジャーナルへの寄稿学術論文査読

17 被引用数 (Scopus)

抄録

We report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200 mg/day, activities of the biotin-dependent mitochondrial carboxylases in lymphocytes remained below 50% of the mean control values. Not only urinary 3-hydroxyisovaleric acid excretion has been persistently elevated, but also plasma and, with even higher concentrations, cerebrospinal fluid 3-hydroxyisovaleric acid have not normalized. The unusual and insufficient response of this patient to biotin treatment can be explained by the effect of the combination of the common HLCS allele IVS10 +5 g > a on one chromosome and a truncating mutation on the other. This case illustrates mechanisms involved in the genotype-phenotype correlation that unequivocally exists in HCS deficiency.

本文言語英語
ページ(範囲)160-166
ページ数7
ジャーナルMolecular Genetics and Metabolism
79
3
DOI
出版ステータス出版済み - 2003 7月 1

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