National Reyes Syndrome Foundation UK

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Inherited Metabolic Disorders Which Can Simulate Reye's Syndrome

Other Defects

Disorders of Ammonia Detoxification - Urea Cycle Defects

  • Ornithine transcarbamylase deficiency (OTC)
  • Carbamyl phosphate synthetase deficiency
  • Argininosuccinic aciduria
  • Citrullinaemia
  • Hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) 
    see note vi

Disorder of Amino Acids Transport

  • Lysinuric protein intolerance

Note vi
Hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome, also called Ornithine translocase deficiency is a very rare inborn error of metabolism, the age at presentation and long term prognosis widely vary among affected individuals.  Growth and developmental delays, learning disabilities (usually speech delay) and periodic confusion and ataxia are typically presenting symptoms.  Further information about the disorder can be found by consulting 'Medscape'. See Resources & Reports shown opposite.


Next review January 2020