| H00835 | |
| H番号 | H00835 |
| 名称 | コハク酸セミアルデヒド脱水素酵素欠損症; 4-ヒドロキシ酪酸尿症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (SSADHD) ALDH5A1 [HSA:7915] [KO:K00139] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.E1 ICD-10: E72.8 MeSH: C535803 OMIM: 271980 |
| 文献 | PMID:18708003 著者 Kayser MA タイトル Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. 雑誌 Semin Pediatr Neurol 15:127-31 (2008) DOI:10.1016/j.spen.2008.05.006 PMID:19172412 著者 Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH タイトル Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 雑誌 J Inherit Metab Dis 32:343-52 (2009) DOI:10.1007/s10545-009-1034-y PMID:9683595 (SSADHD) 著者 Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM タイトル Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). 雑誌 Am J Hum Genet 63:399-408 (1998) DOI:10.1086/301964 |