Document Detail


Biotin and biotinidase deficiency.
MedLine Citation:
PMID:  19727438     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Biotin is a water-soluble vitamin that serves as an essential coenzyme for five carboxylases in mammals. Biotin-dependent carboxylases catalyze the fixation of bicarbonate in organic acids and play crucial roles in the metabolism of fatty acids, amino acids and glucose. Carboxylase activities decrease substantially in response to biotin deficiency. Biotin is also covalently attached to histones; biotinylated histones are enriched in repeat regions in the human genome and appear to play a role in transcriptional repression of genes and genome stability. Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug-vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. Biotin deficiency can also be precipitated by decreased activities of the following proteins that play critical roles in biotin homeostasis: the vitamin transporters sodium-dependent multivitamin transporter and monocarboxylate transporter 1, which mediate biotin transport in the intestine, liver and peripheral tissues, and renal reabsorption; holocarboxylase synthetase, which mediates the binding of biotin to carboxylases and histones; and biotinidase, which plays a central role in the intestinal absorption of biotin, the transport of biotin in plasma and the regulation of histone biotinylation. Symptoms of biotin deficiency include seizures, hypotonia, ataxia, dermatitis, hair loss, mental retardation, ketolactic acidosis, organic aciduria and also fetal malformations. This review focuses on the deficiencies of both biotin and biotinidase, and the medical management of such cases.
Authors:
Janos Zempleni; Yousef I Hassan; Subhashinee Sk Wijeratne
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Expert review of endocrinology & metabolism     Volume:  3     ISSN:  -     ISO Abbreviation:  -     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2009-9-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101278293     Medline TA:  Expert Rev Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  715-724     Citation Subset:  -    
Affiliation:
Department of Nutrition and Health Sciences, University of Nebraska-Lincoln, Lincoln, NE 68586, USA, Tel.: +1 402 472 3270, , zempleni2@unl.edu.
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Descriptor/Qualifier:
Grant Support
ID/Acronym/Agency:
R01 DK063945-05A1//NIDDK NIH HHS; R01 DK077816-01A2//NIDDK NIH HHS; R21 ES015206-02//NIEHS NIH HHS

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