How do you test for Biotinidase deficiency?

Biotinidase deficiency can be diagnosed in newborns through newborn screening. Newborn screening is a special type of screening test that newborns receive to see if they have certain diseases. Because the newborn screen is a screening test, a positive result does not mean that an infant definitely has the disease.

What type of disorder is Biotinidase deficiency?

Biotinidase deficiency is an autosomal recessively inherited neurocutaneous disorder. The symptoms of the disorder can be successfully treated or prevented by administering pharmacological doses of biotin.

Does Biotin deficiency cause seizures?

Biotin deficiency is characterized by acute metabolic encephalopathy, neuro-developmental delay, anti-epileptic drug resistant seizure disorder, muscular hypotonia, alopecia and skin rash.

What is Biotin deficiency baby?

Biotinidase deficiency is a genetic disorder that is found in a few babies born each year. When a baby has biotinidase deficiency, he or she cannot use biotin, a vitamin that is found in foods, including breast milk and infant formula. Without biotin, the baby will not grow and develop properly.

How are blood tests done for biotinidase deficiency?

Newborn screening for biotinidase deficiency is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.

What is the role of biotinidase in the body?

Biotinidase is an essential enzyme that liberates biotin from proteins in foods for utilization by the body. It also enables the body to recycle biotin, which is necessary for proper functioning of carboxylase enzymes.

What can cause a false positive biotinidase test?

False positive results may occur with specimens drawn from pre-term infants, or with improper handling of the specimen. Improper drying, delayed submission or exposure to excess heat are all factors that can destroy the enzyme. Transfusions may cause false negative results.

What happens if Biotinidase is out of range?

If your baby’s blood spot screening result for biotinidase deficiency is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans. An out-of-range screening result does not mean that your baby definitely has the condition.