Biopterin Defect in Cofactor Regeneration (BIOPT-REG) - Diseases and Conditions Identified in Children

Biopterin Defect in Cofactor Regeneration (BIOPT-REG)


Biopterin Defects in Cofactor Regeneration (BIOPT-REG) are inborn errors of metabolism, separate conditions that have different genetic causes. In one of these conditions, the enzyme 4a-carbinolamine dehydratase in the body is either missing or not working well. In another condition, the enzyme dihydropteridine reductase in the body is either missing or not working well. These conditions can alter the levels of certain chemicals in the body and can also cause phenylalanine to build up in the body. Phenylalanine is an amino acid (a part of protein). Phenylalanine in high amounts is toxic to the brain. Symptoms can vary and may include intellectual disability, progressive developmental concerns, movement disorders, difficulty swallowing, seizures, problems controlling body temperature and/or other potential signs and symptoms. Early detection and intervention can benefit children with these conditions.

To learn more about Biopterin Defects in Cofactor Regeneration, go to Baby's First Test: Biopterin Defect in Cofactor Regeneration. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.