Reference Work Entry

Encyclopedia of Molecular Mechanisms of Disease

pp 223-224

Biotin Deficiency

  • Wendy M. SealeyAffiliated withInstitute of Physiology, University of TuebingenDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences
  • , Donald M. MockAffiliated withInstitute of Physiology, University of TuebingenDepartment of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences

Synonyms

Vitamin H deficiency; Egg-white syndrome; Egg-white injury

Definition and Characteristics

A nutritional disorder that results due to a deficiency of the water-soluble, B vitamin biotin.

Prevalence

Overt biotin deficiency has never been reported in healthy individuals consuming a regular diet but has been demonstrated in three situations: prolonged intravenous feeding without biotin supplementation, prolonged consumption of raw egg white, and in one infant on a rice-based formula without biotin [1]. Biotin deficiency also occurs in patients with three hereditary disorders: biotinidase deficiency, holocarboxylase synthetase deficiency, and biotin transporter deficiency [2,3]. Other conditions that predispose patients to marginal degrees of biotin deficiency include anticonvulsant medications, liver disease, inflammatory bowel disease and pregnancy.

Genes

Biotin deficiency can result from mutations in holocarboxylase synthetase or in ...

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