[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I]

Pediatrie. 1992;47(12):809-11.
[Article in French]

Abstract

Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / etiology*
  • Female
  • Humans
  • Infant, Newborn
  • Phenylalanine / blood*
  • Tyrosine / blood*

Substances

  • Tyrosine
  • Phenylalanine