| H00146 | |
| H number | H00146 |
| Name | Alpha-N-acetylgalactosaminidase deficiency |
| Description | 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. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | NAGA [HSA:4668] [KO:K01204] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.21 ICD-10: E77.9 MeSH: C536631 OMIM: 609241 609242 |
| Reference | PMID:14685826 AUTHORS Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T TITLE Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). JOURNAL J Hum Genet 49:1-8 (2004) DOI:10.1007/s10038-003-0098-z PMID:10571005 AUTHORS Michalski JC, Klein A TITLE Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. JOURNAL Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 PMID:19683538 AUTHORS Clark NE, Garman SC TITLE The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. JOURNAL J Mol Biol 393:435-47 (2009) DOI:10.1016/j.jmb.2009.08.021 PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:8782044 AUTHORS 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 TITLE Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. JOURNAL J Med Genet 33:458-64 (1996) DOI:10.1136/jmg.33.6.458 |