In 1971, Compartz and colleagues first described multiple carboxylase deficiency responsive to biotin administration. Wolf and colleagues further characterized the infantile form of multiple carboxylase deficiency as biotinidase deficiency (BTD) in 1981.
Based on the results of worldwide screening of biotinidase deficiency (Wolf 1991), the incidence of the disorder is one in 137,401 for profound biotinidase deficiency, one in 109,921 for partial biotinidase deficiency, and one in 61,067 for the combined incidence of profound and partial biotinidase deficiency. Carrier frequency in the general population is approximately one in 120.
Synonyms and Related Disorders
Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase defciency
An autosomal recessive disorder affecting the endogenous recycling and release of biotin (vitamin H) from dietary protein: consecutive biotin depletion resulting in low activities of biotin-dependent carboxylases...
KeywordsNewborn Screening Sensorineural Hearing Loss Preimplantation Genetic Diagnosis Optic Atrophy Molecular Genetic Testing
- Davis, R. G., & DiFazio, M. P. (2009). Biotinidase deficiency (Overview). eMedicine from WebMD. Updated May 27, 2009. Available at http://emedicine.medscape.com
- Heard, G. S., Wolf, B., Jefferson, L. G., et al. (1986). Neonatal screening for biotinidase deficiency: Results of a 1-year pilot study. Journal of Pediatrics, 108, 4046.Google Scholar
- Möslinger, D., Stockler-Ipsiroglu, S., Scheibenreiter, S., et al. (2001). Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. European Journal of Pediatrics, 160, 277–282.PubMedCrossRefGoogle Scholar
- Wolf, B. (1992). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic basis of inherited disease (pp. 2083–2103). NY: McGraw-Hill.Google Scholar
- Wolf, B. (1995). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease (7th ed., pp. 3151–3177). NY: McGraw-Hill.Google Scholar
- Wolf, B. (2001). Disorders of biotin metabolism. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular basis of inherited disease (pp. 3935–3960). New York: McGraw-Hill.Google Scholar
- Wolf, B. (2011). Biotinidase deficiency (Overview). Gene reviews. Updated March 15, 2011. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1322/