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Gene Review

BTD  -  biotinidase

Homo sapiens

Synonyms: Biotinase, Biotinidase
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Disease relevance of BTD


Psychiatry related information on BTD


High impact information on BTD


Chemical compound and disease context of BTD


Biological context of BTD


Anatomical context of BTD


Associations of BTD with chemical compounds

  • Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases [17].
  • Biotinidase-deficient children cannot recycle endogenous biotin, an essential water-soluble B vitamin [7].
  • This mutation results in the substitution of a cysteine for arginine538 (designated R538C) and was found in 10 of 30 symptomatic children with profound biotinidase deficiency, 5 of whom also have the G98:d7i3 mutation [19].
  • We found that 18 of 19 randomly selected individuals with partial deficiency have the transversion missense mutation G1330>C, which substitutes a histidine for aspartic acid444 (D444H) in one allele of the biotinidase gene [1].
  • Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children [19].

Physical interactions of BTD

  • With HPLC biotinidase assay instead of colorimetric method and using non-ionic surfactant, 110-kDa biotinidase was discovered and co-purified in addition to the previously identified 76-kDa biotinidase [22].

Other interactions of BTD


Analytical, diagnostic and therapeutic context of BTD

  • To obtain a clone containing the most 5' exon of the biotinidase cDNA, a human PAC library by PCR was screened [3].
  • Electrophoresis, scattering, and titration calorimetry indicate that NICD and BTD combine to form a 1:1 heterodimer [23].
  • Radiation hybrids and haplotype analysis of markers within this region suggest that BTD is located within a 0.1-cM region flanked by D3S3510 and D3S1286 [27].
  • These results of the BTD study suggest that future case/control studies investigating power frequency magnetic fields might wish to include measurements of 180 Hz or harmonic magnetic fields in order to examine their associations (if any) with disease status [28].
  • Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program [5].


  1. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Swango, K.L., Demirkol, M., Hüner, G., Pronicka, E., Sykut-Cegielska, J., Schulze, A., Mayatepek, E., Wolf, B. Hum. Genet. (1998) [Pubmed]
  2. Examination of the signal peptide region of human biotinidase using a baculovirus expression system. Norrgard, K.J., Hymes, J., Wolf, B. Mol. Genet. Metab. (2000) [Pubmed]
  3. Structure of the human biotinidase gene. Knight, H.C., Reynolds, T.R., Meyers, G.A., Pomponio, R.J., Buck, G.A., Wolf, B. Mamm. Genome (1998) [Pubmed]
  4. Biotinidase deficiency: a novel vitamin recycling defect. Wolf, B., Grier, R.E., Secor McVoy, J.R., Heard, G.S. J. Inherit. Metab. Dis. (1985) [Pubmed]
  5. Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. Wolf, B., Heard, G.S., Jefferson, L.G., Proud, V.K., Nance, W.E., Weissbecker, K.A. N. Engl. J. Med. (1985) [Pubmed]
  6. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Möslinger, D., Stöckler-Ipsiroglu, S., Scheibenreiter, S., Tiefenthaler, M., Mühl, A., Seidl, R., Strobl, W., Plecko, B., Suormala, T., Baumgartner, E.R. Eur. J. Pediatr. (2001) [Pubmed]
  7. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Pomponio, R.J., Reynolds, T.R., Cole, H., Buck, G.A., Wolf, B. Nat. Genet. (1995) [Pubmed]
  8. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. Wolf, B., Grier, R.E., Parker, W.D., Goodman, S.I., Allen, R.J. N. Engl. J. Med. (1983) [Pubmed]
  9. Biotinidase deficiency associated with severe combined immunodeficiency. Hurvitz, H., Ginat-Israeli, T., Elpeleg, O.N., Klar, A., Amir, N. Lancet (1989) [Pubmed]
  10. Biochemical and immunological characterization of serum biotinidase in profound biotinidase deficiency. Hart, P.S., Hymes, J., Wolf, B. Am. J. Hum. Genet. (1992) [Pubmed]
  11. Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid. Korkmazer, N., Vurucu, S., Demirkaya, E., Unay, B., Kul, M., Akin, R., Gokcay, E. Brain Dev. (2006) [Pubmed]
  12. The effect of isotretinoin on biotinidase activity. Schulpis, K.H., Georgala, S., Papakonstantinou, E.D., Michas, T., Karikas, G.A. Skin Pharmacol. Appl. Skin Physiol. (1999) [Pubmed]
  13. Neonatal screening for biotinidase deficiency. Forman, D.T., Bankson, D.D., Highsmith, W.E. Ann. Clin. Lab. Sci. (1992) [Pubmed]
  14. Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. Suormala, T., Wick, H., Bonjour, J.P., Baumgartner, E.R. Clin. Chim. Acta (1985) [Pubmed]
  15. Urinary biotinidase and alanine excretion in patients with insulin-dependent diabetes mellitus. Terentyeva, E.A., Hayakawa, K., Tanae, A., Katsumata, N., Tanaka, T., Hibi, I. European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies. (1997) [Pubmed]
  16. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. Cole, H., Weremowicz, S., Morton, C.C., Wolf, B. Genomics (1994) [Pubmed]
  17. Mutations in BTD causing biotinidase deficiency. Hymes, J., Stanley, C.M., Wolf, B. Hum. Mutat. (2001) [Pubmed]
  18. Human serum biotinidase. cDNA cloning, sequence, and characterization. Cole, H., Reynolds, T.R., Lockyer, J.M., Buck, G.A., Denson, T., Spence, J.E., Hymes, J., Wolf, B. J. Biol. Chem. (1994) [Pubmed]
  19. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. Pomponio, R.J., Norrgard, K.J., Hymes, J., Reynolds, T.R., Buck, G.A., Baumgartner, R., Suormala, T., Wolf, B. Hum. Genet. (1997) [Pubmed]
  20. Biotinidase in human breast milk. Oizumi, J., Hayakawa, K. Am. J. Clin. Nutr. (1988) [Pubmed]
  21. Basal ganglia calcifications in a case of biotinidase deficiency. Schulz, P.E., Weiner, S.P., Belmont, J.W., Fishman, M.A. Neurology (1988) [Pubmed]
  22. Biocytin-specific 110-kDa biotinidase from human serum. Oizumi, J., Hayakawa, K. Clin. Chim. Acta (1993) [Pubmed]
  23. Quantitative Dissection of the Notch:CSL Interaction: Insights into the Notch-mediated Transcriptional Switch. Lubman, O.Y., Ilagan, M.X., Kopan, R., Barrick, D. J. Mol. Biol. (2007) [Pubmed]
  24. Antiinflammatory and analgesic efficacy of COX-2 specific inhibition: from investigational trials to clinical experience. Bensen, W.G. The Journal of rheumatology. Supplement. (2000) [Pubmed]
  25. Lysine residues in N-terminal and C-terminal regions of human histone H2A are targets for biotinylation by biotinidase. Chew, Y.C., Camporeale, G., Kothapalli, N., Sarath, G., Zempleni, J. J. Nutr. Biochem. (2006) [Pubmed]
  26. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Tang, N.L., Hui, J., Yong, C.K., Wong, L.T., Applegarth, D.A., Vallance, H.D., Law, L.K., Fung, S.L., Mak, T.W., Sung, Y.M., Cheung, K.L., Fok, T.F. Clin. Biochem. (2003) [Pubmed]
  27. Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations. Blanton, S.H., Pandya, A., Landa, B.L., Javaheri, R., Xia, X., Nance, W.E., Pomponio, R.J., Norrgard, K.J., Swango, K.L., Demirkol, M., Gülden, H., Coskun, T., Tokatli, A., Ozalp, I., Wolf, B. Hum. Hered. (2000) [Pubmed]
  28. Study of high- and low-current-configuration homes from the 1988 Denver Childhood Cancer Study. Kaune, W.T., Dovan, T., Kavet, R.I., Savitz, D.A., Neutra, R.R. Bioelectromagnetics. (2002) [Pubmed]
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