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Arch Dis Child. 1988 October; 63(10): 1244–1249.
PMCID: PMC1779020

Biotinidase deficiency: a survey of 10 cases.


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

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  • Moss J, Lane MD. The biotin-dependent enzymes. Adv Enzymol Relat Areas Mol Biol. 1971;35:321–442. [PubMed]
  • Gravel RA, Robinson BH. Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases). Ann N Y Acad Sci. 1985;447:225–234. [PubMed]
  • Leonard JV, Seakins JW, Bartlett K, Hyde J, Wilson J, Clayton B. Inherited disorders of 3-methylcrotonyl CoA carboxylation. Arch Dis Child. 1981 Jan;56(1):53–59. [PMC free article] [PubMed]
  • Blom W, de Muinck Keizer SM, Scholte HR. Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. N Engl J Med. 1981 Aug 20;305(8):465–466. [PubMed]
  • Hommes FA, Polman HA, Reerink JD. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child. 1968 Aug;43(230):423–426. [PMC free article] [PubMed]
  • Tang TT, Good TA, Dyken PR, Johnsen SD, McCreadie SR, Sy ST, Lardy HA, Rudolph FB. Pathogenesis of Leigh's encephalomyelopathy. J Pediatr. 1972 Jul;81(1):189–190. [PubMed]
  • Atkin BM, Utter MF, Weinberg MB. 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. [PubMed]
  • Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta. 1983 Jul 15;131(3):273–281. [PubMed]
  • Burri BJ, Sweetman L, Nyhan WL. 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. [PMC free article] [PubMed]
  • Sweetman L, Burri BJ, Nyhan WL. Biotin holocarboxylase synthetase deficiency. Ann N Y Acad Sci. 1985;447:288–296. [PubMed]
  • Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL. Phenotypic variation in biotinidase deficiency. J Pediatr. 1983 Aug;103(2):233–237. [PubMed]
  • Taitz LS, Leonard JV, Bartlett K. Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev. 1985 Sep;11(3-4):325–331. [PubMed]
  • Bartlett K, Ng H, Dale G, Green A, Leonard JV. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation. J Inherit Metab Dis. 1981;4(4):183–189. [PubMed]
  • Clarke EA, Anderson TW. Does screening by "Pap" smears help prevent cervical cancer? A case-control study. Lancet. 1979 Jul 7;2(8132):1–4. [PubMed]
  • Taitz LS, Green A, Strachan I, Bartlett K, Bennet M. Biotinidase deficiency and the eye and ear. Lancet. 1983 Oct 15;2(8355):918–918. [PubMed]
  • Wallace SJ. Biotinidase deficiency: presymptomatic treatment. Arch Dis Child. 1985 Jun;60(6):574–575. [PMC free article] [PubMed]

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