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HHH syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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