• Vol. 45 No. 12
  • 15 December 2016

Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy



Download PDF

H y p e r o r n i t h i n a e m i a – h y p e r a m m o n a e m i a – homocitrullinuria (HHH) syndrome (OMIM #238970) is a rare autosomal recessive disorder associated with mutations of the SLC25A15 gene which encodes the mitochondrial ornithine transporter 1 (ORNT1).

This article is available only as a PDF. Please click on “Download PDF” on top to view the full article.