FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term succinic semialdehyde dehydrogenase deficiency ID (Ontology) DOID:0060175 (Human Disease)
Definition A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
Also Known As "4-hydroxybutyric aciduria" ; "gamma-hydroxybutyric aciduria" ; "SSADH"
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 Genes
 succinic semialdehyde dehydrogenase deficiency       1
 for disease ribbon | succinic semialdehyde dehydrogenase deficiency       1
 model of | succinic semialdehyde dehydrogenase deficiency       1
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  amino acid metabolic disorder
   |__gamma-amino butyric acid metabolism disorder
       |__succinic semialdehyde dehydrogenase deficiency  1 rec.
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Is a gamma-amino butyric acid metabolism disorder
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Synonyms
  • "4-hydroxybutyric aciduria" EXACT
    "gamma-hydroxybutyric aciduria" EXACT
    "SSADH" EXACT OMO:0003012
Secondary IDs
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MESH:C535803
MIM:271980