Click here for Genetests summary of this condition.
1. Wolf B. Disorders of Biotin Metabolism, in: C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 3947-3956.
2. Sweetman L. Two forms of biotin-responsive multiple carboxylase deficiency. J Inherit Metab Dis 1981, 4:53-54.
3. Hart et al. Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. Am J Hum Genet 1992, 50:126-136.
4. Wolf et al. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985, 18:614-617.
5. Heard et al. Neonatal screening for biotinidase deficiency: results of a 1-year pilot Study. J Pediatr 1986, 108:40-46.
6. Bartlett et al. Enzyme studies in combined carboxylase deficiency. Ann NY Acad Sci 1985, 447:235-51.
7. Milankovics et al. Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. Mol Genet Metab 2007, 90:345-348.
8. Hymes et al. Mutations in BTD causing biotinidase deficiency. Hum Mutat 2001, 200:375-381.
9. Norrgard et al. Double mutation [A171T and D444H] is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. Hum Mutat 1998, 11:410.
10. Wolf et al. Profound biotinidase deficiency in two asymptomatic adults. Am J Med Genet 1997, 73:5-9.
11. Wolf, et al. Biotinidase Deficiency: Novel Mutations and Their Biochemical and Clinical Correlates. Hum Mutat 2005, Mutation in Brief #800, Online.
12. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991, 14:923-7.
- Confirmation of a clinical/biochemical diagnosis of biotinidase deficiency
- Carrier testing in adults with a family history of biotinidase deficiency
Clinical Sensitivity: 97/98 mutations identified in 49 patients , 26/26 mutations identified in 13 patients .
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) or ACD (yellow top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Biotinidase enzyme assay (BX), urine organic acid analysis (OA) and plasma acylcarnitine analysis (AR) are used in the diagnosis of a patient with BTD.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by sequencing.
- A deletion/duplication assay is available separately for individuals where mutations are not identified by sequence analysis. Refer to the test requisition or contact the laboratory for more information.
- Prenatal testing is available for known familial mutations only. Please call the Laboratory Genetic Counselor before collecting a fetal sample.