Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency

J Pediatr. 1985 Jun;106(6):954-6. doi: 10.1016/s0022-3476(85)80251-1.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aminohydrolases / deficiency*
  • Biopterins / analogs & derivatives
  • GTP Cyclohydrolase / deficiency*
  • Humans
  • Infant, Newborn
  • Leukocyte Count
  • Liver / enzymology
  • Male
  • Neopterin / analogs & derivatives
  • Phenylalanine / blood*
  • Pteridines
  • Pterins / urine
  • T-Lymphocytes

Substances

  • Pteridines
  • Pterins
  • 7,8-dihydroneopterin
  • Biopterins
  • Phenylalanine
  • Neopterin
  • sepiapterin
  • Aminohydrolases
  • GTP Cyclohydrolase
  • sapropterin