Biotinidase Deficiency

Biotinidase Deficiency Biotinidase deficiency is an inherited metabolic disorder which prevents the body from processing biotin in a normal manner. It was not discovered until 1983 (Thibodeau, Wolf, 1999),# therefore no long term research on the disease has been done. Children with the disease are given large doses of free biotin which alleviates present symptoms of the disease and prevents new symptoms from developing. So far no long term side effects of the treatment have been discovered …

…then broken down, but the biotin stays attached to the lysine to form biocytin. the biocytin is then broken down by biotinidase and the biotin is reused. when biotinidase activity is not sufficient for the carboxylases to perform their normal functions, and harmful by-products build up in the body. The body is also unable to recycle the free biotin that it has, therefore it needs to be supplied with much more than normal (Thibodeau, Wolf, 1999).