Find Support With:
Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Biotinidase Deficiency can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Biotinidase Deficiency.
About Biotinidase Deficiency
Children affected by Biotinidase Deficiency do not have the enzyme needed to process biotin. Processing biotin is necessary for breaking down fats, proteins, and carbohydrates.
Early signs of untreated Biotinidase Deficiency include seizures, weak muscle tone, trouble breathing, skin rash, and hair loss. Without treatment, long-term symptoms include developmental delay, eye abnormalities, and hearing loss.
However, if the condition is detected early and proper treatment is begun, children with Biotinidase Deficiency often have healthy growth and development.
Frequency
Biotinidase Deficiency affects approximately 1 in 60,000 babies in the United States.
Condition Type
Biotinidase Deficiency is a genetic disorder.
Also Known As
BIOT, BTD Deficiency, Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency