title: 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.
authors.affiliation: Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
authors.forename: Syeda Kashfi
authors.initials: SK
authors.lastname: Qadri
authors.forename: Teck Wah
authors.initials: TW
authors.lastname: Ting
authors.forename: James Sc
authors.initials: JS
authors.lastname: Lim
authors.forename: Saumya Shekhar
authors.initials: SS
authors.lastname: Jamuar
mesh_terms: D026923:Amino Acid Transport Systems, Basic / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis* / Q000209:etiology; D002648:Child; D004252:DNA Mutational Analysis; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D009952:Ornithine / Q000172:deficiency* / Q000235:genetics; D012008:Recurrence; D012720:Severity of Illness Index; D056806:Urea Cycle Disorders, Inborn / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics
chemical_list: D026923:Amino Acid Transport Systems, Basic; D033681:Mitochondrial Membrane Transport Proteins; C442901:SLC25A15 protein, human; D009952:Ornithine