| H00835 | |
| H number | H00835 |
| 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 | Inherited metabolic disorder |
| Network | - |
| Gene | (SSADHD) ALDH5A1 [HSA:7915] [KO:K00139] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E1 ICD-10: E72.8 MeSH: C535803 OMIM: 271980 |
| Reference | PMID:18708003 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 PMID:19172412 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 PMID:9683595 (SSADHD) AUTHORS Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM TITLE Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). JOURNAL Am J Hum Genet 63:399-408 (1998) DOI:10.1086/301964 |