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

Abstract：

: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 gene. The mutation appears to abolish a putative glycosylation site in a region in which other missense mutations have been identified, indicating that this region of the enzyme must be important for enzyme activity. This mutation may affect secretion or stability of the enzyme in serum. Interestingly, this child is now 8 years old, has not been on biotin supplementation for 3 years, and has remained asymptomatic.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

doi

10.1006/mgme.1998.2706

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

152-4

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(98)92706-8

journal_volume

64

pub_type

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