Biopterin Defect in Cofactor Regeneration (BIOPT-REG)

 

Biopterin Defect in Cofactor Regeneration (BIOPT-REG) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. It is considered an amino acid condition because people with BIOPT-REG are unable to process certain amino acids, small molecules that make up proteins. Infants with this condition appear normal at birth, but medical problems ranging from mild to severe occur over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature. Detecting the condition early and beginning treatment can often prevent the severe outcomes of BIOPT-REG.

This condition is also known as: tetrahydrobiopterin deficiency, BH4 deficiency, hyperphenylalaninemia caused by a defect in biopterin metabolism, non-phenylketonuric hyperphenylalaninemia, disorders of biopterin biosynthesis, biopterin cofactor defects, biopterin-4alpha-carbinolamine dehydratase deficiency, dihydropteridine reductase deficiency.

To learn more about Biopterin Defect in Cofactor Regeneration, go to Baby's First Test: Biopterin Defect in Cofactor Regeneration. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.