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succinic semialdehyde dehydrogenase deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
succinic semialdehyde dehydrogenase deficiency
Unique ID
C535803
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535803
Entry Term(s)
4-Hydroxybutyricaciduria
4-hydroxybutyric aciduria
Gamma-Hydroxybutyric Acidemia
Gamma-Hydroxybutyric Aciduria
SSADH Deficiency
Registry Numbers
0
Heading Mapped to
*Amino Acid Metabolism, Inborn Errors
*Developmental Disabilities
Succinate-Semialdehyde Dehydrogenase / deficiency
Frequency
74
Note
A rare hereditary autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GAMMA-AMINOBUTYRIC ACID (GABA). It is characterized by DEVELOPMENTAL DISABILITIES; INTELLECTUAL DISABILITIES; HYPOTONIA; ATAXIA; SEIZURES; AGGRESSION, hyperkinetic behavior, and sleep disturbances. Mutations in the ALDH5A1 gene have been identified. OMIM: 271980
Date of Entry
2010/08/25
Revision Date
2015/09/27
succinic semialdehyde dehydrogenase deficiency Preferred
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