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