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

Abstract：

: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 200mg/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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

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

doi

10.1016/s1096-7192(03)00091-x

subject

Has Abstract

pub_date

2003-07-01 00:00:00

pages

160-6

issue

3

eissn

1096-7192

issn

1096-7206

pii

S109671920300091X

journal_volume

79

pub_type

杂志文章

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