黏多糖贮积症（综述）
The mucopolysaccharidoses (a review).
作者信息
Dorfman A, Matalon R
出版信息
Proc Natl Acad Sci U S A. 1976 Feb;73(2):630-7. doi: 10.1073/pnas.73.2.630.
Abstract
The mucopolysaccharidoses are a group of genetic diseases characterized by storage of incompletely degraded glycosaminoglycans. Such storage causes marked distortion of many tissues with consequent severe somatic changes and mental retardation. Storage of glycosaminoglycans results from markedly diminished activity of specific hydrolases requisite for the normal degradation of glycosaminoglycans. The specific enzymic defects have been identified in nine different diseases. In some cases evidence has been obtained indicating the existence of additional allelic diseases based on the same enzyme. The knowledge obtained from these studies has made prenatal diagnosis possible and has led to the possibility that therapy may be undertaken utilizing enzyme replacement.
摘要
黏多糖贮积症是一组遗传性疾病，其特征是不完全降解的糖胺聚糖蓄积。这种蓄积导致许多组织明显变形，从而引起严重的躯体变化和智力发育迟缓。糖胺聚糖的蓄积是由于糖胺聚糖正常降解所需的特定水解酶活性显著降低所致。已在九种不同疾病中发现了特定的酶缺陷。在某些情况下，已获得证据表明基于同一种酶存在其他等位基因疾病。从这些研究中获得的知识使产前诊断成为可能，并带来了利用酶替代疗法的可能性。
相似文献
1
The mucopolysaccharidoses (a review).黏多糖贮积症（综述）
Proc Natl Acad Sci U S A. 1976 Feb;73(2):630-7. doi: 10.1073/pnas.73.2.630.
2
The biochemical basis for mucopolysaccharidoses and mucolipidoses.黏多糖贮积症和黏脂贮积症的生化基础。
Prog Med Genet. 1974;10:81-101.
3
The mucopolysaccaridoses: clinical and biochemical correlations.黏多糖贮积症：临床与生化关联
Am J Ment Defic. 1979 Sep;84(2):113-23.
4
Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with alpha-L-iduronidase-deficient fibroblasts.来自一名黏多糖贮积症I型患者肝脏的硫酸乙酰肝素和硫酸皮肤素：与α-L-艾杜糖醛酸酶缺陷型成纤维细胞孵育后其降解产物的高效液相色谱分析
Clin Chim Acta. 1984 Feb 28;137(2):179-87. doi: 10.1016/0009-8981(84)90178-5.
5
Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans in normals and four types of mucopolysaccharidoses.黏多糖贮积症的神经化学：正常人和四种黏多糖贮积症患者大脑中的糖胺聚糖
J Neurochem. 1976 May;26(5):901-8. doi: 10.1111/j.1471-4159.1976.tb06471.x.
6
Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.芳基硫酸酯酶 K 的失活导致黏多糖贮积症，原因是肝素和硫酸软骨素的葡萄糖醛酸去磺化作用不足。
Biochem J. 2020 Sep 18;477(17):3433-3451. doi: 10.1042/BCJ20200546.
7
Inherited disorders of lysosomal metabolism.溶酶体代谢的遗传性疾病。
Annu Rev Biochem. 1975;44:357-76. doi: 10.1146/annurev.bi.44.070175.002041.
8
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.黏多糖贮积症I型中的糖胺聚糖降解片段
Glycobiology. 2004 May;14(5):443-50. doi: 10.1093/glycob/cwh049. Epub 2004 Jan 12.
9
The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.黏多糖贮积症：氨基聚糖分解代谢的先天性缺陷。
Hum Genet. 1976 Jun 29;32(3):233-55. doi: 10.1007/BF00295816.
10
Replacement of genotype-specific proteins in mucopolysaccharidoses.
Birth Defects Orig Artic Ser. 1973 Mar;9(2):27-30.
引用本文的文献
1
Dysregulation of genes coding for proteins involved in metabolic processes in mucopolysaccharidoses, evidenced by a transcriptomic approach.通过转录组学方法证实，黏多糖贮积症中参与代谢过程的蛋白质编码基因失调。
Metab Brain Dis. 2023 Aug;38(6):2133-2144. doi: 10.1007/s11011-023-01231-5. Epub 2023 May 17.
2
Mass spectrometry for metabolomics analysis: Applications in neonatal and cancer screening.代谢组学分析中的质谱法：在新生儿和癌症筛查中的应用。
Mass Spectrom Rev. 2024 Jul-Aug;43(4):683-712. doi: 10.1002/mas.21826. Epub 2022 Dec 16.
3
Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.沙特阿拉伯特发性身材矮小患者中I型黏多糖贮积症的疾病患病率：一项多中心横断面研究方案
JMIR Res Protoc. 2021 Aug 31;10(8):e28619. doi: 10.2196/28619.
4
Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses.通过基于成纤维细胞培养的转录组分析评估黏多糖贮积症中细胞过程调控相关基因表达的变化。
Metab Brain Dis. 2020 Dec;35(8):1353-1360. doi: 10.1007/s11011-020-00614-2. Epub 2020 Sep 4.
5
Proton conductivity of glycosaminoglycans.糖胺聚糖的质子传导性。
PLoS One. 2019 Mar 8;14(3):e0202713. doi: 10.1371/journal.pone.0202713. eCollection 2019.
6
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.台湾地区采用串联质谱技术进行黏多糖贮积症 I、II 和 VI 型的新生儿筛查。
J Pediatr. 2019 Feb;205:176-182. doi: 10.1016/j.jpeds.2018.09.063. Epub 2018 Nov 6.
7
Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model.肝脏靶向人羊膜上皮细胞移植改善黏多糖贮积症Ⅰ型小鼠的全身疾病表型。
Stem Cells Transl Med. 2017 Jul;6(7):1583-1594. doi: 10.1002/sctm.16-0449. Epub 2017 Jun 6.
8
Glycosaminoglycans in the human cornea: age-related changes.人眼角膜中的糖胺聚糖：与年龄相关的变化
Ophthalmol Eye Dis. 2015 Jan 27;7:1-5. doi: 10.4137/OED.S17204. eCollection 2015.
9
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.脊椎骨骺发育不良与双侧莱格-卡尔维-佩特兹病：黏多糖贮积症的诊断考量
JIMD Rep. 2013;11:125-32. doi: 10.1007/8904_2013_231. Epub 2013 May 9.
10
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy.犬黏多糖贮积症 I 型的动脉病理学和治疗反应。
Lab Invest. 2011 May;91(5):665-74. doi: 10.1038/labinvest.2011.7. Epub 2011 Mar 7.
本文引用的文献
1
A Rare Disease in Two Brothers.两兄弟患同一种罕见病。
Proc R Soc Med. 1917;10(Sect Study Dis Child):104-16. doi: 10.1177/003591571701001833.
2
TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.黏多糖在胡勒-普凡德勒病中的组织储存
Proc Natl Acad Sci U S A. 1957 Sep 15;43(9):783-90. doi: 10.1073/pnas.43.9.783.
3
OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.黏多糖贮积症Ⅰ型中尿酸性黏多糖的出现情况。
Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.
4
Sickle cell anemia a molecular disease.镰状细胞贫血是一种分子疾病。
Science. 1949 Nov 25;110(2865):543-8. doi: 10.1126/science.110.2865.543.
5
Gargoylism; a mucopolysaccharidosis.承雷氏病；一种黏多糖贮积症。
Scand J Clin Lab Invest. 1952;4(1):43-6. doi: 10.3109/00365515209060631.
6
A newly recognized forme fruste of Hurler's disease (gargoylism).一种新发现的胡勒氏病（黏多糖贮积症Ⅰ型）的顿挫型。
Am J Ophthalmol. 1962 May;53:753-69.
7
Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.黏多糖贮积症Ⅱ型患者尿液中硫酸角质素的分离与鉴定
Proc Soc Exp Biol Med. 1962 Aug-Sep;110:847-9. doi: 10.3181/00379727-110-27668.
8
[ULTRASTRUCTURE OF THE HEPATIC CELLS IN HURLER'S DISEASE (GARGOYLISM)].[黏多糖贮积症Ⅰ型（承霤病）肝细胞的超微结构]
C R Hebd Seances Acad Sci. 1964 Aug 3;259:1281-3.
9
[A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B].[一种伴有硫酸软骨素B经尿液排泄的新型骨发育不全症]
Presse Med (1893). 1963 Sep 25;71:1849-52.
10
Properties of galactosemic cells in culture.培养中的半乳糖血症细胞的特性。
Biochem Biophys Res Commun. 1960 Nov;3:518-24. doi: 10.1016/0006-291x(60)90167-4.
Zotero 插件