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Serves as liaison and provides funding to Michigan’s 45 local health departments.
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Date added to Michigan Newborn Screening: October 1987
Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. The blood is tested for rare, hidden disorders that may affect your baby’s health and development. The newborn screen suggests your baby might have a disorder called biotinidase deficiency.
A positive newborn screen does not mean your baby has biotinidase deficiency, but it does mean your baby needs more testing to know for sure.
You will be notified by your primary care provider or the newborn screening program to arrange for additional testing.
Biotinidase deficiency affects an enzyme needed to free biotin (one of the B vitamins) from the food we eat, so it can be used for energy and growth.
A person with biotinidase deficiency doesn’t have enough enzyme to free biotin from foods so it can be used by the body.
Biotinidase deficiency is a genetic disorder that is passed on (inherited) from parents to a child. The mother and father of an affected child carry a gene change that can cause biotinidase deficiency. Parents usually do not have signs or symptoms, or even know they carry the gene change.
Biotinidase deficiency is different for each child. Some children have a mild, partial biotinidase deficiency with few health problems, while other children may have complete biotinidase deficiency with serious complications.
If biotinidase deficiency is not treated, a child might develop:
It is very important to follow the doctor’s instructions for testing and treatment.
Biotinidase deficiency can be treated. Treatment is life-long and includes:
Children with biotinidase deficiency should see their regular doctor, a doctor who specializes in biotinidase deficiency, and a dietitian.
Prompt and careful treatment helps children with biotinidase deficiency live the healthiest lives possible.
Michigan Newborn Screening Nurse Consultant
Toll-free: 1-866-673-9939
Email: NewbornScreening@Michigan.gov
Michigan Metabolic Coordinating Center
C.S. Mott Children’s Hospital, Michigan Medicine:
1-734-764-0579
Children’s Special Health Care Services
Toll-free: 1-800-359-3722