Article
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.
Molecular genetics and metabolism - 1 Jun 1998
Pomponio R J, Yamaguchi A, Arashima S, Hymes J, Wolf B
Abstract excerpt
The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to pu...
Topics
- Amidohydrolases
- Amino Acid Substitution
- Asparagine
- Binding Sites
- Biotinidase
- Child
- DNA Mutational Analysis
- Glycosylation
- Homozygote
- Humans
- Japan
- Male