49 rows · Aug 04, · Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), . Adult-onset biotinidase deficiency. Biotinidase is the enzyme that recycles the water-soluble vitamin, biotin, which is the coenzyme for four carboxylases that are involved in gluconeogenesis, fatty acid synthesis, and in the catabolism of several branch-chain amino acids. Biotinidase deficiency (BD) is a rare (worldwide is incidence is ,), autosomal .
Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup of potentially toxic compounds in the body. If the condition is not treated promptly, . The first brother's neurological issues partially reversed with biotin. However, the longer-term symptoms of the other brother were irreversible. These cases emphasize the importance of considering biotinidase deficiency in the differential diagnosis of adolescents and adults with peripheral neuropa .
Jun 03, · Individuals with biotinidase deficiency Biotinidase deficiency is a rare autosomal recessive disorder that prevents the body from releasing free biotin, leading to biotin deficiency despite normal intake. Without treatment, biotinidase deficiency produces neurological and cutaneous symptoms, and profound biotinidase deficiency can lead to coma .