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.
- Author:
Syeda Kashfi QADRI
1
;
Teck Wah TING
;
James Sc LIM
;
Saumya Shekhar JAMUAR
Author Information
1. Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
- Publication Type:Case Reports
- MeSH:
Amino Acid Transport Systems, Basic;
genetics;
Brain Diseases;
diagnosis;
etiology;
Child;
DNA Mutational Analysis;
Diet, Protein-Restricted;
Female;
Humans;
Hyperammonemia;
complications;
diagnosis;
diet therapy;
genetics;
Ornithine;
deficiency;
genetics;
Recurrence;
Severity of Illness Index;
Urea Cycle Disorders, Inborn;
complications;
diagnosis;
diet therapy;
genetics
- From:Annals of the Academy of Medicine, Singapore
2016;45(12):563-566
- CountrySingapore
- Language:English
