Details of Disease

General Information of Disease (ID: DISVYC3M)

Disease Name Succinic semialdehyde dehydrogenase deficiency
Synonyms
GABA metabolic defect; SSADHD; Ssadh deficiency; gamma-hydroxybutyricaciduria; succinic semialdehyde dehydrogenase deficiency; 4-hydroxybutyric aciduria; SSADH; SSADH deficiency; gamma-hydroxybutyric aciduria
Definition
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
Disease Hierarchy
DISJM2EH: Gamma-amino butyric acid metabolism disorder
DISVYC3M: Succinic semialdehyde dehydrogenase deficiency
Disease Identifiers
MONDO ID
MONDO_0010083
MESH ID
C535803
UMLS CUI
C0268631
OMIM ID
271980
MedGen ID
124340
Orphanet ID
22
SNOMED CT ID
49748000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALDH5A1 TTJUWVB Strong Biomarker [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ADHFE1 DE8RJ3F Definitive Biomarker [2]
ALDH5A1 DE5KEWZ Definitive Autosomal recessive [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALDH5A1 OTF3TBTK Definitive Autosomal recessive [3]
GABBR1 OTU5A52J Definitive Biomarker [4]
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References

1 Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4.
2 D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?.Mol Genet Metab. 2006 May;88(1):53-7. doi: 10.1016/j.ymgme.2005.12.002. Epub 2006 Jan 25.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4 GABAB-ergic motor cortex dysfunction in SSADH deficiency.Neurology. 2012 Jul 3;79(1):47-54. doi: 10.1212/WNL.0b013e31825dcf71. Epub 2012 Jun 20.