KEGG DISEASE: Fucosidosis

KEGG

DISEASE: Fucosidosis

Entry

H00141                      Disease

Name

Fucosidosis

Supergrp

Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]

Description

Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products of glycoproteins and glycolipids in many organs. The disease is classified into two types: type 1 for severe phenotypes and type 2 for milder phenotypes.

Category

Inherited metabolic disorder, Lysosomal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00141  Fucosidosis

Pathway

Lysosome

Other glycan degradation

Gene

FUCA1 [HSA:2517] [KO:K01206]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Winchester B

Title

Lysosomal metabolism of glycoproteins.

Journal

Glycobiology 15:1R-15R (2005)
DOI:10.1093/glycob/cwi041

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

Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS

Title

Spectrum of mutations in fucosidosis.

Journal

Eur J Hum Genet 7:60-7 (1999)
DOI:10.1038/sj.ejhg.5200272

Reference

Authors

Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A

Title

MR brain imaging of fucosidosis type I.

Journal

AJNR Am J Neuroradiol 22:777-80 (2001)

Reference

Authors

Abdallah C, Hannallah R, McGill W

Title

Anesthesia for fucosidosis.

Journal

Paediatr Anaesth 17:994-7 (2007)
DOI:10.1111/j.1460-9592.2007.02269.x

LinkDB

» Japanese version

DBGET integrated database retrieval system