About
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. People with BIOPT-BS are unable to process certain amino acids, a building block of protein. Babies with BIOPT-BS usually appear healthy at birth, but signs of this condition may develop over time. Symptoms include developmental delays, seizures, behavioral problems, poor suckling during feed, trouble regulating body temperature, sleeping longer and more often, and weak muscle tone. Some of these signs may occur when a baby eats foods the body cannot break down. Early detection and proper treatment can often prevent the severe outcomes of BIOPT-BS.
Condition Type:
Secondary
Frequency:
Biopterin defect in cofactor biosynthesis (BIOPT-BS) is very rare. This condition is considered one form of tetrahydrobiopterin deficiency. Overall, tetrahydrobiopterin deficiency affects 1 in every 1 million newborns.
More Information for Parents:
Also known as:
- BIOPT-BS
- Tetrahydrobiopterin deficiency
- BH4 deficiency
- Hyperphenylalaninemia caused by a defect in biopterin metabolism
- Non-phenylketonuria hyperphenylalaninemia
- Conditions of biopterin biosynthesis
- Biopterin cofactor defects
- Guanosine triphosphate cyclohydrolase 1 deficiency
- 6-pyruvoyl-tetrahydropterin synthase deficiency
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)