Biochemical Genetic Test: Biotinidase

Also known as: biotinidase blood test, blood test for biotinidase deficiency.

What is the biochemical for biotinidase?

Biotinidase is an enzyme in the body, which when deficient prevents the body using and reusing biotin, a vitamin that helps with the metabolism of carbohydrates, fats and proteins.There are 2 types of biotinidase deficiency (an inherited condition) that differ in severity (mild and profound), and treatment. Clinical presentation may occur within a few months of birth or later in childhood. Early signs include seizure, weakness of muscles (hypotonia), difficulty breathing, skin rash and fungal infections. Later presentations include seizures, developmental delays, vision and hearing problems and more.

What happens during the procedure?

A blood sample is drawn shortly after birth and sent a laboratory to screen for biotinidase deficiency. If a deficiency is measured a repeat blood sample will be required to confirm the result. Prenatally, biotinidase activity can also be measured from cultured maternal amniotic cells.

Is any special preparation needed?

No special preparation is required for this test.

What are the risk factors?

Blood is obtained in the usual way which caries minimal risks. Infection, bleeding, bruising, swelling or damage to tissues nearby may occasionally occur.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: March 26, 2019 12:26 PM