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Homocitrullinuria
- ... of a substance called homocitrulline in the urine (homocitrullinuria).Another version of the mitochondrial ornithine transporter protein ... symptoms of the condition. HHH syndrome ... syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria ...
- ... human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct;60(4): ... Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene ...