| H00146 | |
| H番号 | H00146 |
| 名称 | α-N-アセチルガラクトサミニダーゼ欠損症 |
| 概要 | Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides from glycolipids and glycoproteins (primarily O-linked). The enzymatic defect results in inappropriate accumulation of substrates in various organ systems. NAGA deficiency is divided into three types. Type 1 is Schindler disease, characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | NAGA [HSA:4668] [KO:K01204] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.21 ICD-10: E77.9 MeSH: C536631 OMIM: 609241 609242 |
| 文献 | PMID:14685826 著者 Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T タイトル Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). 雑誌 J Hum Genet 49:1-8 (2004) DOI:10.1007/s10038-003-0098-z PMID:10571005 著者 Michalski JC, Klein A タイトル Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 雑誌 Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 PMID:19683538 著者 Clark NE, Garman SC タイトル The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. 雑誌 J Mol Biol 393:435-47 (2009) DOI:10.1016/j.jmb.2009.08.021 PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:8782044 著者 Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP タイトル Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. 雑誌 J Med Genet 33:458-64 (1996) DOI:10.1136/jmg.33.6.458 |