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Tetrahydrobiopterin biosynthetic pathway and deficiency.
Journal article

Tetrahydrobiopterin biosynthetic pathway and deficiency.

  • 1987-01-01
Published in:
  • Enzyme. - 1987
Alcohol Oxidoreductases
Biopterin
Female
Humans
Phenylalanine
Phenylketonurias
Phosphorus-Oxygen Lyases
Pregnancy
Prenatal Diagnosis
English It has been proven that the most common defect in the tetrahydrobiopterin biosynthesis is caused by 6-pyruvoyl tetrahydropterin synthase deficiency. The enzyme 6-pyruvoyl tetrahydropterin synthase consists of four identical subunits which convert dihydroneopterin triphosphate to 6-pyruvoyl tetrahydropterin in the presence of magnesium. UV, NMR, and MS data prove that the enzyme catalyzes the elimination of triphosphate as well as the intramolecular rearrangement. The 6-pyruvoyl tetrahydropterin synthase activity was measured in fetal erythrocytes and together with the neopterin and biopterin measurements in amniotic fluid this enabled performing prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency. Peripheral tetrahydrobiopterin deficiency was shown to be due to an incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/118455
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