[A rare cause of neonatal hyperphenylalaninemia: tyrosinemia type I].
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.
Sarles
J
J
Service de pédiatrie et génétique médicale, hôpital d'enfants de La Timone, Marseille, France.
Maurin
N
N
Giraud
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010649:Phenylalanine / Q000097:blood*; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine; D010649:Phenylalanine
Une cause rare d'hyperphénylalaninémie néonatale: la tyrosinémie de type I.