Literature DB >> 9329423

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

E Zammarchi1, F Ciani, E Pasquini, G Buonocore, V E Shih, M A Donati, G Bonocore.   

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.

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Year:  1997        PMID： 9329423     DOI： 10.1016/s0022-3476(97)80072-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  2 in total

1.  Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Authors:  AbdulRazaq A H Sokoro; Joyce Lepage; Nick Antonishyn; Ryan McDonald; Cheryl Rockman-Greenberg; James Irvine; Denis C Lehotay
Journal:  J Inherit Metab Dis       Date:  2010-06-24       Impact factor: 4.982

Review 2.  The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Authors:  Diego Martinelli; Daria Diodato; Emanuela Ponzi; Magnus Monné; Sara Boenzi; Enrico Bertini; Giuseppe Fiermonte; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2015-03-11       Impact factor: 4.123
  2 in total

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