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Biotinidase Deficiency

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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].

Molecular and Systemic Pathophysiology

Biotin is a water-soluble vitamin that as a coenzyme is covalently attached to four carboxylases in humans (Fig. 1) [1].

Biotinidase Deficiency. Figure 1
figure 1_230

Biotinidase bi-cycle pathway.

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  • DOI: 10.1007/978-3-540-29676-8_230
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Biotinidase Deficiency. Figure 1

References

  1. 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

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  2. 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

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  3. Hymes J, Wolf B (1996) Biotinidase and its role in biotin metabolism. Clin Chim Acta 255:1–11

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  4. Hymes J, Wolf B (1999) Human biotinidase isn't just for recycling biotin. J Nutr 129:485S–489S

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  5. Hymes J, Stanley CM, Wolf B (2001) Mutations in BTD causing biotinidase deficiency. Hum Mutat 200:375–381

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© 2009 Springer-Verlag GmbH Berlin Heidelberg

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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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