Biotinidase deficiency is an inherited disorder in which the body is not able to process the vitamin biotin, also known as Vitamin H. Infants may be born without signs of Biotinidase deficiency, but the symptoms become apparent after the first few weeks or months of birth. The symptoms are poor coordination (ataxia), red-eye (conjunctivitis), hearing loss, drowsiness (lethargy), low levels of ammonia in blood serum, breathing problems and sight problems.
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?
This disease requires medication that needs to be continued on a daily basis. Commonly followed treatment is oral administration of biotin. However, if symptoms begin to show up, specific treatment for the symptoms needs to be given.
DID YOU KNOW?
Biotin is an important water soluble nutrient that facilitates metabolism of carbohydrates, fats and proteins.