Biotin and biotinidase deficiency

Janos Zempleni, Yousef I. Hassan, Subhashinee S K Wijeratne

Research output: Contribution to journalReview article

71 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)715-724
Number of pages10
JournalExpert Review of Endocrinology and Metabolism
Volume3
Issue number6
DOIs
StatePublished - Dec 1 2008

Fingerprint

Biotinidase Deficiency
Biotin
biotin carboxylase
Histones
Vitamins
Biotinidase
Biotinylation
Muscle Hypotonia
Biotin deficiency
Genomic Instability
Coenzymes
Alopecia
Intestinal Absorption
Case Management
Dermatitis
Human Genome
Ataxia
Bicarbonates
Acidosis
Drug Interactions

Keywords

  • Biotin
  • Biotinidase
  • Carboxylases
  • Deficiency
  • Histones
  • Holocarboxylase synthetase

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

Cite this

Biotin and biotinidase deficiency. / Zempleni, Janos; Hassan, Yousef I.; Wijeratne, Subhashinee S K.

In: Expert Review of Endocrinology and Metabolism, Vol. 3, No. 6, 01.12.2008, p. 715-724.

Research output: Contribution to journalReview article

Zempleni, Janos ; Hassan, Yousef I. ; Wijeratne, Subhashinee S K. / Biotin and biotinidase deficiency. In: Expert Review of Endocrinology and Metabolism. 2008 ; Vol. 3, No. 6. pp. 715-724.
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