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Basic metabolism: Biotinidase is an enzyme that allows the body to use and recycle the b vitamin biotin. It extracts biotin from food because the body can not produce it itself. This enzyme also recycles biotin from other enzymes in the body that use it as a helper component in order to function. Biotinidase is important in the processing of fats, carbohydrates and proteins. It is a very important enzyme. ...Read more
See below: seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these ...Read moreSee 1 more doctor answer
See below: Usually when biotinidase deficiency is suspected, an inborn error of metabolism is suspected and multiple labs are drawn as the general symptoms are similar to may other inborn errors of metabolism. Labs including, serum ammonia, urine organic acids, plasma amino acids urine ketones, blood gas, serum chemistries, biotinidase, carnitine, and acylcarnitine profiles are drawn. Results will vary. ...Read more
Should i be concerned if my daughter was recently diagnosed with biotinidase deficiency. Need help with reading lab report(s).?
VERY concerned: If you do not follow instructions exactly, your daughter will end up severely disabled. If you comply, she should have a good life. This is why we test for it. And please forgive my frankness -- if the folks who gave you the reports did not explain them clearly, go right back and demand that they do so. Everything depends on your being accurately informed and pro-active. ...Read more
Rash?: Is there anaccompaning rash? Isolated itching can be from the outside dry skin, cold, exercise or an irritation. From the inside due to medications, renal, or liver issues. Hydrocortisone cream, saran lotion, calamine, aloe vera can all offer temporary reilef. Need more info for a more specific answer. ...Read moreSee 2 more doctor answers