MeSH Browser

MeSH Supplementary: HHH syndrome
Unique ID: C538380
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538380
Entry Term(s): Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome; Hyperornithinemia-hyperammonemia-homocitrullinuria; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Ornithine translocase deficiency; Triple H Syndrome
Heading Mapped to: Ornithine / deficiency; *Hyperammonemia; *Urea Cycle Disorders, Inborn
Frequency: 28
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

HHH syndrome MeSH Supplementary Concept Data 2024