Biotinidase Deficiency and BTD  Genetics Home Reference

Biotinidase deficiency (OMIM #609019) is an autosomal recessive disorder in which the body is unable to reuse or recycle biotin. The gene that encodes biotinidase is found on chromosome 3p25 and consists of four exons. The GenBank reference sequence NC_000003.10 was used.

Complete biotinidase deficiency is defined as presence of less than 10% of normal enzyme activity, while partial biotinidase deficiency is defined as having 10-30% of normal enzyme activity. Left untreated, complete biotinidase deficiency causes seizures, hypotonia, developmental delay, respiratory problems, rashes, alopecia, hearing loss, or ataxia and can culminate in coma or death. Untreated partial biotinidase deficiency may cause any of these symptoms, but they may be mild or only exhibited when the individual is stressed or suffering from illness.

ARUP Laboratories offers the following testing:
  • Five mutation panel (test 0051700)
  • Full gene sequencing (test 0051730)

Database Information

The BTD database currently has 202 total entries.



Citations

When using this resource in publications please link to:

http://www.arup.utah.edu/database/BTD/BTD_welcome.php