What are the medical problems associated with biotinidase deficiency?

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 .
Seizures. If untreated , seizures and possible brain damage.Easily treated with a vitamin-biotin daily.

Related Questions

What labs are drawn with biotinidase deficiency and what do they mean?

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...