Indian Journal of Clinical Biochemistry

, Volume 18, Issue 2, pp 23–26 | Cite as

Biotinidase deficiency—Diagnosis by enzyme assay and a follow-up study

  • N. Ananth
  • G. S. Praveen Kumar
Article

Abstract

A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild, acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency., a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinylp-aminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency.

Key words

Biotin biotinidase n-biotinyl para aminobenzoate alopecia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Survey of results of neonatal screening programs for biotinidase deficiency in (1987) Therell, B. (Ed.) Proceedings of the International Symposium for Neonatal Screening, Amsterdam, Elsevier, 231.Google Scholar
  2. 2.
    Sander, J.E., Packman, S. and Townsend, J.J. (1982) Brain pyruvate carboxylase and the pathophysiology of biotin—dependent diseases. Neurology 32, 878.PubMedGoogle Scholar
  3. 3.
    Dirrow, M., Superti-Furga, A., Durand, P., Cerone, R. and Romano, C. (1984) Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. J. Inherited Metab. Dis. 7 (Suppl 2), 119.Google Scholar
  4. 4.
    Diamantopoulous, N., Painter, M.J., Wolf, B., Heard, G.S. and Roe, C. (1986). Biotinidase deficiency: Accumulation of lactate in the brain in response to physiologic doses of biotin. Neurology 36, 1107.Google Scholar
  5. 5.
    Weissbecker, K.A., Wolf, B., Puissan, C. and Nance, W.E. (1985) Detection of heterozygotes for biotinidase deficiency. Am J. Hum. Genet. 37, A 81.Google Scholar
  6. 6.
    Heard, G.S., Secor McVoy, J.R. and Wolf, B. (1984) A screening method for biotinidase deficiency in new borns. Clin. Chem. 30, 125.PubMedGoogle Scholar
  7. 7.
    The Metabolic Basis of Inherited Disease, Vol. II, 6th Edition; (1989) Editors: Charles R. Scriver, Arthur L. Beaudet, William S. Sly and David Valle; Mc Graw Hill Information Services Company, Health Professions Division, USA.Google Scholar
  8. 8.
    Hayawaka, K. and Oizumi, J. (1986) Determination of biotinidase activity by liquid chromatography with fluorimetric detection. J. Chromat. 383, 148.CrossRefGoogle Scholar
  9. 9.
    Wastall, H., Dole, G. and Bartlett, K. (1984) A sensitive fluorimetric method rate assay for biotinidase deficiency using a new derivative of biotin, biotinyl—6- amino quinilone. Anal. Biochem. 140,69.CrossRefGoogle Scholar
  10. 10.
    Pispa, J. (1965) Animal biotinidase. Ann. Med. Exp. Biol. Fenn, 43 (Suppl. 5), 1.PubMedGoogle Scholar
  11. 11.
    Chauhan, J., and Dakshinamurti, K. (1986) Purification and characterization of human serum biotinidase. J. Biol. Chem. 261, 4268.PubMedGoogle Scholar
  12. 12.
    Craft, D.V., Goss, N.H., Chandramouli, N. and Wood, H.G. (1985) Purification of biotinidase from human plasma and its activity on biotinyl peptides. Biochem. 24, 2471.CrossRefGoogle Scholar

Copyright information

© Association of Clinical Biochemists of India 2003

Authors and Affiliations

  • N. Ananth
    • 1
  • G. S. Praveen Kumar
    • 1
  1. 1.Department of Biochemistry Kasturba Medical CollegeCenter for Basic SciencesMangalore

Personalised recommendations