Inherited defects of biotin metabolism
| Autor: | E. Regula Baumgartner, Terttu Suormala |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Vitamin
biology Biotinidase Clinical Biochemistry Biotin General Medicine Carbohydrate metabolism medicine.disease Biochemistry Cofactor Amidohydrolases Pyruvate carboxylase chemistry.chemical_compound chemistry Biotin Metabolism medicine biology.protein Humans Molecular Medicine Acquired deficiency Carbon-Nitrogen Ligases Multiple carboxylase deficiency Metabolism Inborn Errors |
| Zdroj: | BioFactors. 10:287-290 |
| ISSN: | 1872-8081 0951-6433 |
| DOI: | 10.1002/biof.5520100229 |
| Popis: | Biotin is the cofactor of the 4 biotin-dependent carboxylases (propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, acetyl-CoA carboxylase), which play a key role in vitally important pathways in protein, lipid, and carbohydrate metabolism in man. Since biotin is present in many foodstuffs and required only in trace amounts, acquired deficiency of this vitamin is extremely rare in man. In 1971 the first report of an inherited biotin-responsive disorder was published by Gompertz et al. [1]. The infant suffered from 3-methylcrotonylglycinuria, severe metabolic ketoacidosis, vomiting and seizures, and improved clinically and biochemically with biotin therapy. Deficiency of each of the biotin dependent carboxylases, i.e., multiple carboxylase deficiency (MCD), was demonstrated in his cultured fibroblasts. |
| Databáze: | OpenAIRE |
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