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
Genetics/Basic Defects
- 1.
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...
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References
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(2012). Biotinidase Deficiency. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_24
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_24
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