KEGG   DISEASE: H00422Help
Entry
H00422                      Disease                                

Name
Glycoproteinoses, including:
Sialidosis/ Mucolipidosis I [DS:H00142];
Galactosialidosis [DS:H00276];
alpha-Mannosidosis [DS:H00139];
beta-Mannosidosis [DS:H00140];
Aspartylglucosaminuria (AGU) [DS:H00145];
Fucosidosis [DS:H00141];
Schindler/ Kanzaki disease [DS:H00146]
Description
Glycoproteinoses is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes that play important roles in the degradation of glycoproteins such as N-linked or O-linked oligosaccharides. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded oligosaccharides in lysosomes. Glycoproteinoses share many clinical features such as mental retardation, coarse facies, and dysostosis multiplex. Cathepsin A-deficiency causes combined sialidase and beta-galactosidase deficiency (Sialidosis and Galactosialidosis) due to its function in stabilising these two hydrolases.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
BRITE hierarchy
Pathway
Other glycan degradation
Lysosome
Glycosphingolipid biosynthesis - globo series
Gene
(Sialidosis, Galactosialidosis) NEU1; lysosomal sialidase [HSA:4758] [KO:K01186]
(Galactosialidosis) CTSA; cathepsin A [HSA:5476] [KO:K13289]
(Galactosialidosis) GLB1; beta-galactosidase [HSA:2720] [KO:K12309]
(alpha-Mannosidosis) MAN2B1; lysosomal alpha-mannosidase [HSA:4125] [KO:K12311]
(beta-Mannosidosis) MANBA; lysosomal beta-mannosidase [HSA:4126] [KO:K01192]
(AGU) AGA; aspartylglucosaminidase [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1; alpha-L-fucosidase [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA; alpha-N-acetylgalactosaminidase [HSA:4668] [KO:K01204]
Marker
(Sialidosis, Galactosialidosis) N-Acetylneuraminic acid (Sialic acid) [CPD:C00270]
(alpha, beta-Mannosidosis, AGU, Fucosidosis, Schindler/ Kanzaki) Urine oligosaccharides, Vacuolated lymphocytes
(Fucosidosis type 1) Increased sodium chloride content of sweat
Drug
(alpha-Mannosidosis, AGU, Fucosidosis) Hematopoietic stem cell transplantation
Comment
The diagnosis is confirmed by measuring enzyme activity in leukocytes or fibroblasts.
Some diseases are described as some phenotypes.
(Sialidosis) Type 1: the mild form with late-onset. Type 2: the severe form with infantile onset.
(Galactosialidosis) The early infantile type. The late infantile type. The juvenile/adult type.
(alpha-Mannosidosis) Type 1: a severe form with hepatomegaly and early death. Type2: a mild form with hearing loss and mental retardation.
(Fucosidosis) Type 1: a severe form. Type2: a mild form.
(Schindler/ Kanzaki) Type1 (Schindler disease): a severe form. Type2 (Kanzaki disease): an adult-onset disorder. Type3: an intermediate disorder with mild-to-moderate neurologic manifestations.
Other DBs
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
Reference
  Authors
Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV
  Title
Molecular pathology of NEU1 gene in sialidosis.
  Journal
Hum Mutat 22:343-52 (2003)
Reference
PMID:8985184 (Sialidosis, Galactosialidosis)
  Authors
Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A
  Title
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
  Journal
Genes Dev 10:3156-69 (1996)
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)
Reference
PMID:16712870 (Sialidosis)
  Authors
Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS
  Title
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
  Journal
J Neurol Sci 247:65-9 (2006)
Reference
PMID:18651971 (alpha-Mannosidosis)
  Authors
Malm D, Nilssen O
  Title
Alpha-mannosidosis.
  Journal
Orphanet J Rare Dis 3:21 (2008)
Reference
PMID:18980795 (beta-Mannosidosis)
  Authors
Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T
  Title
Beta-mannosidosis: a new cause of spinocerebellar ataxia.
  Journal
Clin Neurol Neurosurg 111:109-10 (2009)
Reference
PMID:8405810 (AGU)
  Authors
Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr
  Title
Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.
  Journal
FASEB J 7:1247-56 (1993)
Reference
PMID:10094192 (Fucosidosis)
  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)
Reference
PMID:17767638 (Fucosidosis)
  Authors
Abdallah C, Hannallah R, McGill W
  Title
Anesthesia for fucosidosis.
  Journal
Paediatr Anaesth 17:994-7 (2007)
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)
Reference
PMID:19683538 (Schindler/ Kanzaki)
  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)

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