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 biotinidase, and possibly a putative biotin...
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Mock DM (1999) Biotin. In: Shils M, Olson JA, Shike M, Ross AC (eds) Nutrition in health and disease. 9th edn. Williams and Wilkins, Baltimore, MD pp 459–466
Hymes J, Wolf B (1999) Human biotinidase isn’t just for recycling biotin. J Nutr 129:477S–484S
Baumgartner ER, Suormala T (1999) Inherited defects of biotin metabolism. Biofactors 10:287–290
Mock NI et al. (1997) Increased urinary excretion of 3-hydroxyisovaleric acid and decreased urinary excretion of biotin are sensitive early indicators of decreased biotin status in experimental biotin deficiency. Am J Clin Nutr 65:951–958
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2009 Springer-Verlag GmbH Berlin Heidelberg
About this entry
Cite this entry
Sealey, W.M., Mock, D.M. (2009). Biotin Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_229
Download citation
DOI: https://doi.org/10.1007/978-3-540-29676-8_229
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences