Biotinidase

Biotinidase deficiency is a genetically determined inborn defect in the of biotin metabolism. It is inherited in an autosomal recessive manner Biotin in food occurs as complexes with proteins. W Small intestine there is a proteolytic breakdown of biotin carriers with the participation of the enzyme biotinidase. Biotin is necessary for the course of various metabolic processes, among others in the metabolism of of proteins and fats, it also participates in the absorption of vitamin C, cooperates in the metabolism of amino acids and carbohydrates, participates with vitamin K in the synthesis of prothrombin and influences the proper functioning of the skin and hair. Symptoms of biotin deficiency are: imbalance, retardation of psychomotor development, seizures, paresis of the limbs, hypotonia (weakening of muscle strength), atrophy of the of the optic nerves, impaired vision, hearing loss, impaired respiration, alopecia/hair loss, inflammation of the seborrheic dermatitis, psoriatic skin lesions, dryness and discoloration of the skin and mucous membranes. The disease can manifest itself in the the first few months of a newborn's life but can also occur later in life. Determination of biotinidase in blood serum is useful in diagnosing enzyme deficiency.