| H00422 | |
| H番号 | H00422 |
| 名称 | 糖タンパク分解反応異常症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | 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. |
| リンク | ICD-11: 5C56.2 ICD-10: E77.1 OMIM: 256550 256540 248500 248510 208400 230000 609241 609242 |
| 文献 | PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:14517945 著者 Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV タイトル Molecular pathology of NEU1 gene in sialidosis. 雑誌 Hum Mutat 22:343-52 (2003) DOI:10.1002/humu.10268 PMID:8985184 (Sialidosis, Galactosialidosis) 著者 Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A タイトル Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. 雑誌 Genes Dev 10:3156-69 (1996) DOI:10.1101/gad.10.24.3156 PMID:10571005 著者 Michalski JC, Klein A タイトル Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 雑誌 Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 PMID:16712870 (Sialidosis) 著者 Chen CM, Lai SC, Chen IC, Hsu KC, Lyu RK, Ro LS, Chang HS タイトル First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 雑誌 J Neurol Sci 247:65-9 (2006) DOI:10.1016/j.jns.2006.03.013 PMID:18651971 (alpha-Mannosidosis) 著者 Malm D, Nilssen O タイトル Alpha-mannosidosis. 雑誌 Orphanet J Rare Dis 3:21 (2008) DOI:10.1186/1750-1172-3-21 PMID:18980795 (beta-Mannosidosis) 著者 Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T タイトル Beta-mannosidosis: a new cause of spinocerebellar ataxia. 雑誌 Clin Neurol Neurosurg 111:109-10 (2009) DOI:10.1016/j.clineuro.2008.09.007 PMID:8405810 (AGU) 著者 Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr タイトル Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. 雑誌 FASEB J 7:1247-56 (1993) DOI:10.1096/fasebj.7.13.8405810 PMID:10094192 (Fucosidosis) 著者 Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS タイトル Spectrum of mutations in fucosidosis. 雑誌 Eur J Hum Genet 7:60-7 (1999) DOI:10.1038/sj.ejhg.5200272 PMID:17767638 (Fucosidosis) 著者 Abdallah C, Hannallah R, McGill W タイトル Anesthesia for fucosidosis. 雑誌 Paediatr Anaesth 17:994-7 (2007) DOI:10.1111/j.1460-9592.2007.02269.x PMID:14685826 著者 Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T タイトル Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). 雑誌 J Hum Genet 49:1-8 (2004) DOI:10.1007/s10038-003-0098-z PMID:19683538 (Schindler/ Kanzaki) 著者 Clark NE, Garman SC タイトル The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. 雑誌 J Mol Biol 393:435-47 (2009) DOI:10.1016/j.jmb.2009.08.021 |