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

Ann Acad Med Singap. 2016 Dec;45(12):563-566.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Amino Acid Transport Systems, Basic / genetics
  • Brain Diseases / diagnosis*
  • Brain Diseases / etiology
  • Child
  • DNA Mutational Analysis
  • Diet, Protein-Restricted
  • Female
  • Humans
  • Hyperammonemia / complications
  • Hyperammonemia / diagnosis*
  • Hyperammonemia / diet therapy
  • Hyperammonemia / genetics
  • Mitochondrial Membrane Transport Proteins
  • Ornithine / deficiency*
  • Ornithine / genetics
  • Recurrence
  • Severity of Illness Index
  • Urea Cycle Disorders, Inborn / complications
  • Urea Cycle Disorders, Inborn / diagnosis*
  • Urea Cycle Disorders, Inborn / diet therapy
  • Urea Cycle Disorders, Inborn / genetics

Substances

  • Amino Acid Transport Systems, Basic
  • Mitochondrial Membrane Transport Proteins
  • SLC25A15 protein, human
  • Ornithine

Supplementary concepts

  • HHH syndrome