Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS) - Diseases and Conditions Identified in Children

Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)


Biopterin defects in cofactor biosynthesis (BIOPT-BS) are inborn errors of metabolism, separate conditions that have different genetic causes. In one of these conditions, the enzyme GTP cyclohydrolase 1 in the body is either missing or not working well. In another condition, the enzyme 6-pyruvoyltetrahydropterin synthase 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 developmental delay, seizures, movement disorders 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 biosynthesis, visit Baby's First Test: Biopterin Defect in Cofactor Biosynthesis. 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.