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Hyperornithinemia
- ... of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Pediatr Res. 2006 Oct; ... rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Mol ...
- ... a result, excess ornithine accumulates in the blood (hyperornithinemia), and less P5C than normal is produced. It ... M, Ozawa K, Togari H. Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. Tohoku J Exp ...