Article
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Molecular genetics and metabolism - 1 Jul 2003
Santer R, Muhle H, Suormala T, Baumgartner E R, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U
Abstract excerpt
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...
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