| H00422 | |
| H number | H00422 |
| Name | Glycoproteinoses |
| Description | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities 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 disorder, Lysosomal disease |
| Network | - |
| Gene | (Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186] (Galactosialidosis) CTSA [HSA:5476] [KO:K13289] (Galactosialidosis) GLB1 [HSA:2720] [KO:K12309] (alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311] (beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192] (AGU) AGA [HSA:175] [KO:K01444] (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206] (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | ICD-11: 5C56.2 ICD-10: E77.1 OMIM: 256550 256540 248500 248510 208400 230000 609241 609242 |
| Reference | 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:14517945 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) DOI:10.1002/humu.10268 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) DOI:10.1101/gad.10.24.3156 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: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) DOI:10.1016/j.jns.2006.03.013 PMID:18651971 (alpha-Mannosidosis) AUTHORS Malm D, Nilssen O TITLE Alpha-mannosidosis. JOURNAL Orphanet J Rare Dis 3:21 (2008) DOI:10.1186/1750-1172-3-21 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) DOI:10.1016/j.clineuro.2008.09.007 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) DOI:10.1096/fasebj.7.13.8405810 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) DOI:10.1038/sj.ejhg.5200272 PMID:17767638 (Fucosidosis) 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 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: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) DOI:10.1016/j.jmb.2009.08.021 |