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Int J Mol Sci ; 25(12)2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38928282

RESUMEN

Biotin (vitamin B7, or vitamin H) is a water-soluble B-vitamin that functions as a cofactor for carboxylases, i.e., enzymes involved in the cellular metabolism of fatty acids and amino acids and in gluconeogenesis; moreover, as reported, biotin may be involved in gene regulation. Biotin is not synthesized by human cells, but it is found in food and is also produced by intestinal bacteria. Biotin status/homeostasis in human individuals depends on several factors, including efficiency/deficiency of the enzymes involved in biotin recycling within the human organism (biotinidase, holocarboxylase synthetase), and/or effectiveness of intestinal uptake, which is mainly accomplished through the sodium-dependent multivitamin transporter. In the last years, administration of biotin at high/"pharmacological" doses has been proposed to treat specific defects/deficiencies and human disorders, exhibiting mainly neurological and/or dermatological symptoms and including biotinidase deficiency, holocarboxylase synthetase deficiency, and biotin-thiamine-responsive basal ganglia disease. On the other hand, according to warnings of the Food and Drug Administration, USA, high biotin levels can affect clinical biotin-(strept)avidin assays and thus lead to false results during quantification of critical biomarkers. In this review article, recent findings/advancements that may offer new insight in the abovementioned research fields concerning biotin will be presented and briefly discussed.


Asunto(s)
Biotina , Deficiencia de Biotinidasa , Biotinidasa , Homeostasis , Humanos , Biotina/metabolismo , Deficiencia de Biotinidasa/metabolismo , Deficiencia de Biotinidasa/diagnóstico , Deficiencia de Biotinidasa/genética , Deficiencia de Biotinidasa/tratamiento farmacológico , Biotinidasa/metabolismo , Biotinidasa/genética , Deficiencia de Holocarboxilasa Sintetasa/metabolismo , Ligasas de Carbono-Nitrógeno/metabolismo , Ligasas de Carbono-Nitrógeno/genética , Animales , Ataxia/metabolismo , Ataxia/genética , Enfermedades de los Ganglios Basales
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