Biotinidase Deficiency

Biotinidase deficiency is a disorder of biotin metabolism. Patients are classified as having either a profound or partial deficiency based on measurement of biotinidase activity in serum. Clinical features of profound untreated biotinidase deficiency include seizures, ataxia, hypotonia, developmental delay, alopecia, hearing loss, eye problems, skin rash, lactic acidosis and ketosis. Onset of symptoms usually occurs by several months of age but may occur during late childhood or adolescence. Partial biotinidase deficiency may exhibit any of the above symptoms but the symptoms are usually milder and may only occur during periods of metabolic stress. The symptoms of biotinidase deficiency can be prevented by administration of oral biotin making this disorder highly amenable to newborn screening programs in the U.S. and worldwide. However, once the eye, hearing problems, and developmental delay occur, they may be irreversible.

Tests Available

Forms and Documents

Test Details

BTD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

294
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1
No
Yes
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Hymes, et al, (2001) Hum Mutat 18:375-381
  2. Wolf, et al, (2002) Molec Genet Metab 77:108-111
  3. Milankovics, et al, (2007) Molec Genet Metab 90:345-348
  4. Wolf, et al (2005) Hum Mutat 25:413
  5. Norrgard, et al (1999) Pediatr Res 46:20-27
  6. Pomponio, et al, (1997) Hum Genet 99:506-12
  7. Dobrowolski, et al, (2003) Molec Genet Metab 78:100-107