This is a metabolic disorder that springs from the body’s inability to store Vitamin B7, which is said to aid fat metabolism of fats, proteins and carbohydrates. Owing to this, the release of biotin from the proteins in the diet does not take place which gives rise to biotin deficiency. The symptoms may include seizures, weakness in the muscles and joints, and rashes on the skin.
HOW IS BIOTINIDASE DEFICIENCY DIAGNOSED?
Genetic testing with newborn screening can go a long way in diagnosing the issue in the early stage itself. A heel prick can be conducted to gather a blood sample that can be tested by the pediatrician in order to diagnose the ailment accurately.
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?
If left untreated Biotinidase deficiency may lead to coma and death