Abstract
The recent developments in cofactor therapy of inherited biochemical disease has awakened interest in biotin as a therapeutic agent. This review briefly details the physiological and biochemical aspects of human biotin metabolism. The role of biotin in therapy of human disease is critically examined and the relevant literature extensively reviewed. It is our hope that this review will stimulate further clinical interest in the treatment of biotin-responsive human disorders.
Publication types
- Research Support, U.S. Gov't, P.H.S.
- Review
MeSH terms
- Acetyl-CoA Carboxylase / metabolism
- Adult
- Biotin / deficiency
- Biotin / physiology*
- Biotin / therapeutic use
- Carbon-Carbon Ligases*
- Carboxy-Lyases / deficiency
- Carboxy-Lyases / genetics
- Child
- Dermatitis / etiology
- Female
- Humans
- Infant
- Intestinal Absorption
- Ligases / deficiency
- Ligases / genetics
- Male
- Methylmalonyl-CoA Decarboxylase
- Milk, Human / analysis
- Propionates / deficiency
- Propionates / genetics
- Pyruvate Carboxylase / genetics
- Pyruvate Carboxylase Deficiency Disease
Substances
- Propionates
- Biotin
- Carboxy-Lyases
- Ligases
- Carbon-Carbon Ligases
- Pyruvate Carboxylase
- Acetyl-CoA Carboxylase
- methylcrotonoyl-CoA carboxylase
- Methylmalonyl-CoA Decarboxylase