Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
We report on a neonate with hyperammonemic coma in whom hyperornithinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14C-ornithine on cultured fibroblasts confirmed the diagnosis. At the age of 18 months, the patient is in excellent clinical condition.
Zammarchi
E
E
Department of Pediatrics, Meyer Hospital, University of Florence, Italy.
Ciani
F
F
Pasquini
E
E
Buonocore
G
G
Shih
V E
VE
Donati
M A
MA
Bonocore
G
G
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy* / Q000378:metabolism; D000641:Ammonia / Q000097:blood*; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D002331:Carnitine / Q000627:therapeutic use; D002956:Citrulline / Q000031:analogs & derivatives* / Q000627:therapeutic use / Q000652:urine; D018753:Diet, Protein-Restricted; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009952:Ornithine / Q000378:metabolism* / Q000627:therapeutic use
D001565:Benzoates; C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D019817:Benzoic Acid; D009952:Ornithine; D002331:Carnitine