Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

J Inherit Metab Dis. 1990;13(3):298-300. doi: 10.1007/BF01799379.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alcohol Oxidoreductases / deficiency*
  • Alcohol Oxidoreductases / metabolism
  • Biopterins / cerebrospinal fluid
  • Female
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Hydroxyindoleacetic Acid / cerebrospinal fluid
  • Infant, Newborn
  • Phenotype*
  • Phenylalanine / blood
  • Phosphorus-Oxygen Lyases*
  • Pterins / therapeutic use
  • Pterins / urine

Substances

  • Pterins
  • tetrahydropterin
  • Biopterins
  • Phenylalanine
  • Hydroxyindoleacetic Acid
  • Alcohol Oxidoreductases
  • Phosphorus-Oxygen Lyases
  • 6-pyruvoyltetrahydropterin synthase
  • Homovanillic Acid