Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
Biopterin defect in cofactor biosynthesis (BIOPT-BS) 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-BS are unable to process certain amino acids, small molecules that make up proteins. Some signs and symptoms of this condition may include developmental delay, seizures, and movement disorders. Detecting the condition early and beginning treatment can often prevent the severe outcomes of BIOPT-BS.
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, guanosine triphosphate cyclohydrolase 1 deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency.
To learn more about Biopterin defect in cofactor biosynthesis, visit Baby's First Test: Biopterin Defect in Cofactor Biosynthesis. 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.