Biotinidase Deficiency Essay

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Tiffani May Chemistry Period 2 Biotin Report Ms. Tareila Biotin is important for healthy hair and skin. 100 mg of biotin may prevent hair loss in some men. Biotin helps ...
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 and children with
Tiffani May Chemistry Period 2 Biotin Report Ms. Tareila Biotin is important for healthy hair and skin. 100 mg of biotin may prevent hair loss in some men. Biotin helps ...
the disorder are expected to have a normal lifespan. # This is an autosomal recessive disorder, which means that the gene that causes it is on an antosome rather than a sex chromosome. therefore, one must inherit the defective gene from both parents to have the disorder (Thiodeau, Wolf, 1999). in other words, both parents must be carriers or have the disorder themselves in order to pass it on to their child. The gene that causes this biotinidase deficiency is found on the short arm of chromosome 3. Fourty different mutations have been that can cause biotinidase deficiency have been documented (Thibodeau, Wolf, 1999). In one study four mutations were shown to occur in 59% of children diagnosed with biotinidase deficiency. two of these mutations occurred in both children diagnosed though screening at birth and in children diagnosed by symptoms which developed over time ;however, they occurred in the symptomatic population much more often. because the other two mutations only occurred in children diagnosed by screening, it is thought that they would not develop symptoms even with treatment (Wolf, B. 2000). People with biotinidase deficiency have insufficient biotinidase activity. Carriers (peopel with one defective gene) have 50% of regular biotinidase activity and nomally do not have any of the symptoms of biotinidase deficiency. people with partial biotinidase
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