KEGG   DISEASE: Alpha-N-acetylgalactosaminidase deficiency
Entry
H00146                      Disease                                

Name
Alpha-N-acetylgalactosaminidase deficiency
  Subgroup
Schindler disease
Kanzaki disease
  Supergrp
Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]
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
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00146  Alpha-N-acetylgalactosaminidase deficiency
  Lysosomal storage diseases
   H00146  Alpha-N-acetylgalactosaminidase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00146  Alpha-N-acetylgalactosaminidase deficiency
Related
pathway
hsa04142  Lysosome
hsa00603  Glycosphingolipid biosynthesis - globo and isoglobo series
Gene
NAGA [HSA:4668] [KO:K01204]
Other DBs
ICD-11: 5C56.21
ICD-10: E77.9
MeSH: C536631
OMIM: 609241 609242
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
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

» Japanese version

DBGET integrated database retrieval system