KEGG   DISEASE: Succinic semialdehyde dehydrogenase deficiency
Entry
H00835                      Disease                                
Name
Succinic semialdehyde dehydrogenase deficiency;
4-Hydroxybutyric aciduria
Description
Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic acid from succinic semialdehyde and leading to the increased production of 4-HBA.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00835  Succinic semialdehyde dehydrogenase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00835  Succinic semialdehyde dehydrogenase deficiency
Related
pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00650  Butanoate metabolism
Gene
ALDH5A1 [HSA:7915] [KO:K00139]
Other DBs
ICD-11: 5C50.E1
ICD-10: E72.8
MeSH: C535803
OMIM: 271980
Reference
PMID:18708003 (description, gene, drug)
  Authors
Kayser MA
  Title
Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders.
  Journal
Semin Pediatr Neurol 15:127-31 (2008)
DOI:10.1016/j.spen.2008.05.006
Reference
  Authors
Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH
  Title
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
  Journal
J Inherit Metab Dis 32:343-52 (2009)
DOI:10.1007/s10545-009-1034-y
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