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. 1988 Oct;63(10):1244–1249. doi: 10.1136/adc.63.10.1244

Biotinidase deficiency: a survey of 10 cases.

H J Wastell 1, K Bartlett 1, G Dale 1, A Shein 1
PMCID: PMC1779020  PMID: 3196050

Abstract

Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria. Treatment with biotin results in pronounced, rapid, clinical and biochemical improvement, but some patients have residual neurological damage comprising neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The cause of this permanent damage remains obscure and it is not clear if the early introduction of treatment will prevent it.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Atkin B. M., Utter M. F., Weinberg M. B. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency. Pediatr Res. 1979 Jan;13(1):38–43. doi: 10.1203/00006450-197901000-00009. [DOI] [PubMed] [Google Scholar]
  2. Bartlett K., Ng H., Dale G., Green A., Leonard J. V. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation. J Inherit Metab Dis. 1981;4(4):183–189. doi: 10.1007/BF02263649. [DOI] [PubMed] [Google Scholar]
  3. Blom W., de Muinck Keizer S. M., Scholte H. R. Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. N Engl J Med. 1981 Aug 20;305(8):465–466. doi: 10.1056/NEJM198108203050820. [DOI] [PubMed] [Google Scholar]
  4. Burri B. J., Sweetman L., Nyhan W. L. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest. 1981 Dec;68(6):1491–1495. doi: 10.1172/JCI110402. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Clarke E. A., Anderson T. W. Does screening by "Pap" smears help prevent cervical cancer? A case-control study. Lancet. 1979 Jul 7;2(8132):1–4. doi: 10.1016/s0140-6736(79)90172-7. [DOI] [PubMed] [Google Scholar]
  6. Gravel R. A., Robinson B. H. Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases). Ann N Y Acad Sci. 1985;447:225–234. doi: 10.1111/j.1749-6632.1985.tb18441.x. [DOI] [PubMed] [Google Scholar]
  7. Hommes F. A., Polman H. A., Reerink J. D. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child. 1968 Aug;43(230):423–426. doi: 10.1136/adc.43.230.423. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Leonard J. V., Seakins J. W., Bartlett K., Hyde J., Wilson J., Clayton B. Inherited disorders of 3-methylcrotonyl CoA carboxylation. Arch Dis Child. 1981 Jan;56(1):53–59. doi: 10.1136/adc.56.1.53. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Moss J., Lane M. D. The biotin-dependent enzymes. Adv Enzymol Relat Areas Mol Biol. 1971;35:321–442. doi: 10.1002/9780470122808.ch7. [DOI] [PubMed] [Google Scholar]
  10. Sweetman L., Burri B. J., Nyhan W. L. Biotin holocarboxylase synthetase deficiency. Ann N Y Acad Sci. 1985;447:288–296. doi: 10.1111/j.1749-6632.1985.tb18446.x. [DOI] [PubMed] [Google Scholar]
  11. Taitz L. S., Green A., Strachan I., Bartlett K., Bennet M. Biotinidase deficiency and the eye and ear. Lancet. 1983 Oct 15;2(8355):918–918. doi: 10.1016/s0140-6736(83)90913-3. [DOI] [PubMed] [Google Scholar]
  12. Taitz L. S., Leonard J. V., Bartlett K. Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev. 1985 Sep;11(3-4):325–331. doi: 10.1016/0378-3782(85)90086-6. [DOI] [PubMed] [Google Scholar]
  13. Tang T. T., Good T. A., Dyken P. R., Johnsen S. D., McCreadie S. R., Sy S. T., Lardy H. A., Rudolph F. B. Pathogenesis of Leigh's encephalomyelopathy. J Pediatr. 1972 Jul;81(1):189–190. doi: 10.1016/s0022-3476(72)80428-1. [DOI] [PubMed] [Google Scholar]
  14. Wallace S. J. Biotinidase deficiency: presymptomatic treatment. Arch Dis Child. 1985 Jun;60(6):574–575. doi: 10.1136/adc.60.6.574. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Wolf B., Grier R. E., Allen R. J., Goodman S. I., Kien C. L. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta. 1983 Jul 15;131(3):273–281. doi: 10.1016/0009-8981(83)90096-7. [DOI] [PubMed] [Google Scholar]
  16. Wolf B., Grier R. E., Allen R. J., Goodman S. I., Kien C. L., Parker W. D., Howell D. M., Hurst D. L. Phenotypic variation in biotinidase deficiency. J Pediatr. 1983 Aug;103(2):233–237. doi: 10.1016/s0022-3476(83)80351-5. [DOI] [PubMed] [Google Scholar]

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