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HHH syndrome [Supplementary Concept]

A hereditary deficiency in ornithine metabolism characterized by failure to thrive, liver abnormalities (acute hepatitits and HEPATOMEGALY), intellectual and psychomotor disability, seizures, and other neurologic abnormalities. It is caused by mutations in the SLC25A15 gene. OMIM: 238970

Date introduced: August 25, 2010

MeSH Unique ID: C538380

Heading Mapped to:

Entry Terms:

  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  • Triple H Syndrome
  • Ornithine translocase deficiency
  • Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome
  • Hyperornithinemia-hyperammonemia-homocitrullinuria

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