title: Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Meyer Hospital, University of Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: F
authors.initials: F
authors.lastname: Ciani
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: G
authors.initials: G
authors.lastname: Buonocore
authors.forename: V E
authors.initials: VE
authors.lastname: Shih
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: G
authors.initials: G
authors.lastname: Bonocore
mesh_terms: 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
chemical_list: D001565:Benzoates; C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D019817:Benzoic Acid; D009952:Ornithine; D002331:Carnitine