Article
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
Molecular genetics and metabolism - 1 Jul 2014
Li H, Spencer L, Nahhas F, Miller J, Fribley A, Feldman G, Conway R, Wolf B
Abstract excerpt
Biotinidase deficiency (BD) is an autosomal recessive disorder resulting in the inability to recycle the vitamin biotin. Individuals with biotinidase deficiency can develop neurological and cutaneous symptoms if they are not treated with biotin. To date, more than 165 mutations in the biotinidase gene (BTD) have been reported. Essentially all the mutations result in enzymatic activities with less than 10% of mean...
Topics
- Biotinidase
- Biotinidase Deficiency
- DNA Mutational Analysis
- Enzyme Activation
- Gene Expression Regulation
- Gene Order
- Genetic Loci
- Humans
- Infant, Newborn
- Introns
- Michigan
- Mutation
- Neonatal Screening