Abstract
Analysis of mitochondrial DNA from 15 children with Rett syndrome (RS) and 14 of their mothers is reported from the Department of Pediatrics, Beijing Medical University, China.
Highlights
Nine adults treated with various anticonvulsants, including phenytoin and carbamazepine, compared to 17 controls showed a twofold increase in the 24-hour urinary excretion of bisnorbiotin, biotin sulfoxide, and 3-hydroxyisovaleric acid, metabolites of biotin, whereas urinary and serum biotin concentrations were unchanged
14 of their mothers is reported from the Department of Pediatrics, Beijing Medical University, China
The mutations observed in the mtDNA of patients with Rett syndrome and their mothers lends support to the hypothesis of a genetic basis for the disorder in some cases
Summary
Nine adults treated with various anticonvulsants, including phenytoin and carbamazepine, compared to 17 controls showed a twofold increase in the 24-hour urinary excretion of bisnorbiotin, biotin sulfoxide, and 3-hydroxyisovaleric acid, metabolites of biotin, whereas urinary and serum biotin concentrations were unchanged. Long-term treatment with anticonvulsants may be associated with an increased biotin catabolism. MITOCHONDRIAL DNA MUTATION IN RETT SYNDROME Analysis of mitochondrial DNA from 15 children with Rett syndrome (RS)
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