Article
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Pediatric research - 1 Dec 1997
Pomponio R J, Hymes J, Reynolds T R, Meyers G A, Fleischhauer K, Buck G A, Wolf B
Abstract excerpt
Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin. The disorder can cause neurologic and cutaneous abnormalities that can be treated effectively with pharmacologic doses of biotin. We identified 21 mutations that caus...
Topics
- Acyltransferases
- Amidohydrolases
- Biotinidase
- Child
- Genetic Testing
- Genotype
- Humans
- Mutation
- Phenotype
- Sequence Analysis, DNA