[Citrullinemia: management and clinical course. Apropos of a familial case].
The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.
Gay
C
C
Service de pédiatrie, hôpital Nord, Saint-Priest-en-Jarez, France.
Tronchon
H
H
Divry
P
P
Teyssier
G
G
Freycon
M T
MT
Freycon
F
F
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002956:Citrulline / Q000097:blood*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male
D002956:Citrulline
La citrullinémie: prise en charge et évolution. A propos d'une observation familiale.