Article
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Human genetics - 1 May 1998
Swango K L, Demirkol M, Hüner G, Pronicka E, Sykut-Cegielska J, Schulze A, Mayatepek E, Wolf B
Abstract excerpt
Newborn screening for biotinidase deficiency has identified children with profound biotinidase deficiency (<10% of mean normal serum activity) and those with partial biotinidase deficiency (10%-30% of mean normal serum activity). Children with partial biotinidase deficiency and who are not treate...
Topics
- Alleles
- Amidohydrolases
- Biotinidase
- Child
- Child, Preschool
- Ethnicity
- Humans
- Mutation