StudyRare 🧬 (@studyrare) 's Twitter Profile
StudyRare 🧬

@studyrare

Board prep 4 @GeneticCouns students & @TheABMGG fellows.
Led by clinical geneticist @dpique12
Monthly 📧 w/ board-style q's at studyrare.com

ID: 1211387940808429568

linkhttp://www.studyrare.com calendar_today29-12-2019 20:46:14

1,1K Tweet

3,3K Followers

846 Following

StudyRare 🧬 (@studyrare) 's Twitter Profile Photo
StudyRare 🧬
@studyrare

4 months ago

HHH syndrome (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Defective ornithine transport into mitochondria→ hyperornithinemia → urea cycle blocked → hyperammonemia Excess carbamoyl phos reacts w/ lysine (instead of ornithine) & forms homocitrulline (homocitrullinuria)

HHH syndrome (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Defective ornithine transport into mitochondria→ hyperornithinemia → urea cycle blocked → hyperammonemia Excess carbamoyl phos reacts w/ lysine (instead of ornithine) & forms homocitrulline (homocitrullinuria)