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  • Print publication year: 2010
  • Online publication date: November 2010

4 - Biotin and biotin-responsive disorders

Wolf, B. Disorders of biotin metabolism. Scriver, C., Beaudet, A., Sly, W., Valle, D., eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edition, McGraw Hill, 5085–5108, 2001
McMahon, RJ. Biotin in metabolism and molecular biology. Annu Rev Nutr. 2002;22:221–239. Epub 2002 Jan 4
Said, HM. Recent advances in carrier-mediated intestinal absorption of water-soluble vitamins. Annu Rev Physiol. 2004;66:419–446
Chapman-Smith, A, Cronan, JE. The enzymatic biotinylation of proteins: a post-translational modification of exceptional specificity. Trends Biochem Sci. 1999;24(9):359–363
Hymes, J, Fleischhauer, K, Wolf, B. Biotinidase in serum and tissues. Methods Enzymol. 1997;279:422–434
Zeng, WQ, Al-Yamani, E, Acierno, JS, Slaugenhaupt, S, Gillis, T, MacDonald, ME, Ozand, PT, Gusella, JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005;77(1):16–26
Ozand, PT, Gascon, GG, Al Essa, M, Joshi, S, Al Jishi, E, Bakheet, S, Al Watban, J, Al-Kawi, MZ, Dabbagh, O. Biotin-responsive basal ganglia disease: a novel entity. Brain. 1998;121(Pt 7):1267–1279
Baumgartner, ER, Suormala, T. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. Int J Vitam Nutr Res. 1997;67(5):377–384
Wolf, B. Disorders of biotin metabolism: treatable neurologic syndrome. Rosenberg, R. N., DiMauro, S., Paulson, H. L., Ptácek, L., eds. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease, 4th edition, Lippincott Williams & Wilkins, 705–710, 2007
Wolf, B, Heard, GS. Biotinidase deficiency. Adv Pediatr. 1991;38:1–21
Wolf, B, Feldman, GL. The biotin-dependent carboxylase deficiencies. Am J Hum Genet. 1982;34(5):699–716
Suchy, SF, McVoy, JS, Wolf, B. Neurologic symptoms of biotinidase deficiency: possible explanation. Neurology. 1985;35(10):1510–1511
Bousounis, DP, Camfield, PR, Wolf, B. Reversal of brain atrophy with biotin treatment in biotinidase deficiency. Neuropediatrics. 1993;24(4):214–217
Wolf, B, Spencer, R, Gleason, T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr. 2002;140(2):242–246
Pérez-Monjaras, A, Cervantes-Roldán, R, Meneses-Morales, I, Gravel, RA, Reyes-Carmona, S, Solórzano-Vargas, S, González-Noriega, A, León-Del-Río, A. Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. J Biol Chem. 2008;283(49):34150–34158
Jenuwein, T, Allis, CD. Translating the histone code. Science. 2001;293(5532):1074–1080
Suzuki, Y, Yang, X, Aoki, Y, Kure, S, Matsubara, Y. Mutations in the holocarboxylase synthetase gene HLCS. Hum Mutat. 2005;26(4):285–290
Hymes, J, Stanley, CM, Wolf, B. Mutations in BTD causing biotinidase deficiency. Hum Mutat. 2001;18(5):375–381
Pindolia, K, Jensen, K, Wolf, B. Three dimensional structure of human biotinidase: computer modeling and functional correlations. Mol Genet Metab. 2007
Mardach, R, Zempleni, J, Wolf, B, Cannon, MJ, Jennings, ML, Cress, S, Boylan, J, Roth, S, Cederbaum, S, Mock, DM. Biotin dependency due to a defect in biotin transport. J Clin Invest. 2002;109(12):1617–1623
Visser, CM, Kellogg, RM. Biotin. Its place in evolution. J Mol Evol. 1978;11(2):171–187
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