What is Biotinidase Deficiency?
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Biotinidase deficiency is an inherited condition or disorder where the body is unable to recycle the vitamin known as biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.
In its more severe form known as profound biotinidase deficiency, the condition can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed.
Partial biotinidase deficiency is a milder form of this condition. Without treatment, affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress.
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