Abstract:Biotinidase deficiency is a hereditary metabolic disease from the group of organic acidurias with an autosomal recessive type of inheritance. The disease is caused by mutations in the BTD gene, which encodes an enzyme biotinidase. Deficiency of biotinidase leads to insufficiency of intracellular Biotin, which is the coenzyme of four carboxylases involved in gluconeogenesis, leucine metabolism and biosynthesis of fatty acids. At infringement of function of carboxylase accumulate substrates that are toxic to the… Show more
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