Article
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Orphanet journal of rare diseases - 11 Mar 2015
Martinelli Diego, Diodato Daria, Ponzi Emanuela, Monné Magnus, Boenzi Sara, Bertini Enrico, Fiermonte Giuseppe, Dionisi-Vici Carlo
Abstract excerpt
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for protein rich foods,...
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