The Journal of Nutritional Biochemistry
Volume 16, Issue 7 , Pages 441-445 , July 2005

Biotinidase: its role in biotinidase deficiency and biotin metabolism

  • Barry Wolf

      Affiliations

    • Corresponding Author InformationCorresponding author. Division of Research, Connecticut Children's Medical Center, Hartford, CT 06106, USA. Tel.: +1 860 545 9944; fax: +1 860 545 9906.

Received 30 March 2005 ,Revised 30 March 2005 ,Accepted 30 March 2005.

References 

  1. Lane MD, Young DL, Lynen F. The enzymatic synthesis of holotranscarboxylase from apotranscarboxylase and (+)-biotin: I. Purification of apoenzyme and synthetase: characteristics of the reaction. J Biol Chem. 1964;239:2858–2864
  2. Achuta Murthy PN, Mistry SP. Synthesis of biotin-dependent carboxylases from their apoproteins and biotin. Biochem Rev (India). 1972;43:1–12
  3. Thoma RW, Peterson WH. The enzymatic degradation of soluble bound biotin. J Biol Chem. 1954;210:569–579
  4. Pispa J. Animal biotinidase. Ann Med Exp Biol Fenn. 1965;43(Suppl 5):1–39
  5. Heard GS, Wolf B, Reddy JK. Pancreatic biotinidase activity: the potential for intestinal processing of dietary protein-bound biotin. Pediatr Res. 1984;18:198A
  6. Nilsson L, Kagedal B. Co-purification of human serum lipoamidase and biotinidase: evidence that the two enzyme activities are due to the same enzyme. Biochem J. 1993;291:545–551
  7. Hymes J, Fleischhauer K, Wolf B. Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. Biochem Mol Med. 1995;56:76–83
  8. Thoene J, Wolf B. Biotinidase deficiency in juvenile multiple carboxylase deficiency. Lancet. 1983;2:398
  9. Wolf B, Heard GS, Weissbecker KA, Secor McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol. 1985;18:614–617
  10. Wolf B, Pomponio RJ, Norrgard KJ, Lott IT, Baumgartner ER, Suormala T, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. 1998;132:362–365
  11. Heard GS, Secor McVoy JR, Wolf B. A screening method for biotinidase deficiency in newborns. Clin Chem. 1984;30:125–127
  12. Pettit DA, Amador PS, Wolf B. The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals. Anal Biochem. 1989;179:371–374
  13. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis. 1991;14:923–927
  14. Knight HC, Reynolds TR, Meyers GA, Pomponio RJ, Buck GA, Wolf B. Structure of the human biotinidase gene. Mamm Genome. 1998;9:327–330
  15. Cole H, Reynolds TR, Buck GB, Lockyer JM, Denson T, Spence JE, et al. Human serum biotinidase: cDNA cloning, sequence and characterization. J Biol Chem. 1994;269:6566–6570
  16. Swango KL, Hymes J, Brown P, Wolf B. Amino acid homologies between human biotinidase and bacterial aliphatic amidase: putative identification of the active site of biotinidase. Mol Genet Metab. 2000;69:111–115
  17. Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, et al. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical and clinical analysis. Pediatr Res. 1997;42:840–848
  18. Wolf B, Jensen K, Huner G, Demirkol M, Baykal T, Divry P, et al. Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab. 2002;77:108–111
  19. Chauhan J, Dakshinamurti K. The role of human serum biotinidase as biotin-binding protein. Biochem J. 1988;256:265–270
  20. Mock DM, Lankford G. Studies of the reversible binding of biotin to human plasma. J Nutr. 1990;120:375–381
  21. Hymes J, Fleischhauer K, Wolf B. Biotinylation of biotinidase following incubation with biocytin. Clin Chim Acta. 1995;233:39–45
  22. Hayakawa K, Oizumi J. Human serum biotinidase is a thiol-type enzyme. J Biochem. 1988;103:773–777
  23. Vesely DL, Kemp SF, Elders MJ. Isolation of a biotin receptor from hepatic plasma membranes. Biochem Biophys Res Commun. 1987;143:913–916
  24. Stanley CM, Hymes J, Wolf B. Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase. Mol Genet Metab. 2004;81:300–312
  25. Norrgard KJ, Hymes J, Wolf B. Examination of the signal peptide region of human biotinidase using a baculovirus expression system. Mol Genet Metab. 2000;69:56–63
  26. Grier RE, Heard GS, Watkins P, Wolf B. Low biotinidase activities in the sera of patients with impaired liver function: evidence that the liver is the source of serum biotinidase. Clin Chim Acta. 1989;186:397–400
  27. Weiner DL, Grier RE, Watkins P, Heard GS, Wolf B. Tissue origin of serum biotinidase: implication in biotinidase deficiency. Am J Hum Genet. 1983;34:56A
  28. Wolf B, Secor McVoy JR. A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals. Clin Chim Acta. 1984;135:275–281
  29. Garganta CL, Wolf B. Lipoamidase activity in human serum is due to biotinidase. Clin Chim Acta. 1990;189:313–326
  30. Heard GS, Grier RE, Weiner DL, Secor McVoy JR, Wolf B. Biotinidase: a possible mechanism for the recycling of biotin. Ann N Y Acad Sci. 1985;447:259–262
  31. Nilsson L, Kagedal B. Lipoamidase and biotinidase activities in the rat: tissue distribution and intracellular localization. Eur J Clin Chem Clin Biochem. 1994;32:501–509
  32. Cooper KM, Kennedy S, McConnell S, Kennedy DG, Frigg M. An immunohistochemical study of the distribution of biotin in tissues of pigs and chickens. Res Vet Sci. 1997;63:219–225
  33. Stanley JS, Griffin JB, Zempleni J. Biotinylation of histones in human cells. Effects of cell proliferation. Eur J Biochem. 2002;268:5424–5429
  34. Ballard TD, Wolf J, Griffin JB, Stanley JS, van Calcar S, Zempleni J. Biotinidase catalyzes debiotinylation of histones. Eur J Nutr. 2002;41:78–84
  35. Peters DM, Griffin JB, Stanley JS, Beck MM, Zempleni J. Exposure to UV light causes increased biotinylation of histones in Jurkat cells. Am J Physiol Cell Physiol. 2002;283:C878–C884
  36. Narang MA, Dumas R, Ayer R, Gravel RA. Localization of holocarboxylase synthetase in the nucleus of cells: a novel role for biotin in human biology. Am J Hum Genet. 2002;174:

✩ This paper was presented at the “International Symposium: Vitamins as Regulators of Genetic Expression: Biotin as a Model,” NAFTA Satellite Meeting to the XXV National Congress of Biochemistry, held December 3–4, 2004, in Ixtapa, Zihuatanejo, Mexico. This meeting was sponsored by Sociedad Mexicana de Bioquimica A.C.; Programa de Doctorado en Ciencias Biomedicas, Universidad Nacional Autonoma de Mexico; Laboratorios Roche-Syntex, Mexico; and Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico.

PII: S0955-2863(05)00097-5

doi: 10.1016/j.jnutbio.2005.03.024

The Journal of Nutritional Biochemistry
Volume 16, Issue 7 , Pages 441-445 , July 2005

Article Tools

* Image Usage & Resolution