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Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins.
Biotin is a coenzyme for five carboxylases in the human body (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and 2 forms of acetyl-CoA carboxylase.) Therefore, biotin is essential for amino acid catabolism, gluconeogenesis, and fatty acid metabolism.
Biotin, a B vitamin, is found in foods such as liver, egg yolks, and milk. It is essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions.
Check out this list of biotin-containing foods. Recommended by a nutritionist and doctor, these foods can help your overall health (hair, skin and all!).
When people are ingesting high levels of biotin in dietary supplements, a consequence can be clinically significant interference with diagnostic blood tests that use biotin-streptavidin technology. This methodology is commonly used to measure levels of hormones such as thyroid hormones , and other analytes such as 25-hydroxyvitamin D. Biotin ...
The relationship between the amount of vitamin B 6 consumed and the serum levels of those who consume it varies between individuals. [52] Some people may have high serum concentrations without neuropathy symptoms. [13] [53] [54] It is not known if inhalation of vitamin B 6 while, for example, working with animal feed containing vitamin B 6 is ...
n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a Wikidata View/Edit Human Biotinidase Identifiers Symbol BTD NCBI gene 686 HGNC 1122 OMIM 609019 RefSeq NM_000060 UniProt P43251 Other data EC number 3.5.1.12 Locus Chr. 3 p25 Search for Structures Swiss-model Domains InterPro Biotinidase (EC 3.5.1.12, amidohydrolase ...
Biotin synthase (BioB) (EC 2.8.1.6) is an enzyme that catalyzes the conversion of dethiobiotin (DTB) to biotin; this is the final step in the biotin biosynthetic pathway. Biotin , also known as vitamin B7, is a cofactor used in carboxylation , decarboxylation , and transcarboxylation reactions in many organisms including humans. [ 1 ]