Serious Warning Signs Of A Biotinidase Deficiency
Biotinidase deficiency develops when the body has a very low concentration of biotin, sometimes known as vitamin H. In some patients, biotin may be completely absent. This condition is inherited, and the deficiency itself is caused by the body's lack of ability to recycle and reuse available biotin. Biotin helps the body digest fats, carbohydrates, and protein. Biotinidase deficiency is equally prevalent in males and females, and the first symptoms of the condition normally develop in newborns or in babies less than three months old. In some cases, symptoms may not appear until the child is ten years old. To diagnose the condition, genetic testing can be performed, and newborn babies are routinely tested for this deficiency as part of required newborn screenings. The standard treatment for biotinidase deficiency consists of biotin supplements, and patients normally take between five and twenty milligrams of these supplements daily. While patients have to continue supplementation for life, the majority of patients treated have an excellent prognosis.