Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

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 purified normal biotinidase. He is homozygous for a unique mutation, A1466 > C (Asn489Thr) in exon 4 of the biotinidase...

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