Synonyms
Late-onset multiple carboxylase deficiency; Juvenile-onset multiple carboxylase deficiency
Definition and Characteristics
Autosomal recessively inherited metabolic disease due to a defect in the recycling of the vitamin biotin and if not treated with biotin can lead to neurological and cutaneous abnormalities.
Prevalence
Based on newborn screening for the disorder, the incidence is about 1 in 60,000 births worldwide [1].
Genes
The biotinidase (BTD) gene is located on chromosome 3p25 [1].
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References
Wolf B (2001) Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3935–3962
Wolf B, Grier RE, Secor McVoy JR, Heard GS (1985) Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 8(Suppl. 1):53–58
Hymes J, Wolf B (1996) Biotinidase and its role in biotin metabolism. Clin Chim Acta 255:1–11
Hymes J, Wolf B (1999) Human biotinidase isn't just for recycling biotin. J Nutr 129:485S–489S
Hymes J, Stanley CM, Wolf B (2001) Mutations in BTD causing biotinidase deficiency. Hum Mutat 200:375–381
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Wolf, B. (2009). Biotinidase Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_230
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DOI: https://doi.org/10.1007/978-3-540-29676-8_230
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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