Biotinidase deficiency, which is an inherited metabolic disorder, makes body unable to recycle the vitamin biotin. Profound Biotinidase deficiency is the more severe form of the condition. Babies may be born without signs of Biotinidase deficiency. However, the symptoms may be visible after the first few weeks or months. It can cause vision loss, hearing loss, weak muscle tone (hypotonia), problems with movement and balance (ataxia), breathing problems, skin rashes, hair loss (alopecia), and a fungal infection known as candidiasis. It can also leads to slow development of children.
HOW IS BIOTINIDASE DEFICIENCY DIAGNOSED?
The diagnosis is performed in newborns through screening and examination of family history. And clinical diagnosis is done through testing for blood serum Biotinidase activity. In addition, a positive diagnosis Prenatal testing of sample fluid from the womb for Biotinidase activity is also performed.
HOW IS BIOTINIDASE DEFICIENCY TREATED?
Biotinidase deficiency is treated by increasing vitamins in diet along with heavy doses of vitamin supplements. Treatment should begin as soon as the diagnosis is made. The patient may have to take Biotin for an entire lifetime. Genetic counseling is recommended for families of a child with multiple carboxylase deficiency.
DID YOU KNOW?
If left untreated Biotinidase deficiency may lead to coma and death