使用人工底物诊断戈谢病的陷阱。
Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.
作者信息
Ben-Yoseph Y, Nadler H L
出版信息
J Clin Pathol. 1978 Nov;31(11):1091-3. doi: 10.1136/jcp.31.11.1091.
Abstract
A patient with Gaucher's disease is described, in whom the disease could not be diagnosed enzymically in liver and leucocytes using artificial substrate 4-methylumbelliferyl beta-glucoside. Normal activity was found in the liver, and about 60% of control activity was determined in the patient's leucocytes. In contrast, when [14C]-N-stearoyl glucocerebroside was employed as a substrate, activity as low as 5% of control has been found in all the proband's tissues, and carrier levels were determined in the proband's parents and maternal uncle.
摘要
本文描述了一名戈谢病患者，使用人工底物4-甲基伞形酮基β-葡萄糖苷无法通过酶法在肝脏和白细胞中诊断出该疾病。在肝脏中发现活性正常，在患者白细胞中测定的活性约为对照活性的60%。相比之下，当使用[14C]-N-硬脂酰葡萄糖脑苷脂作为底物时，在所有先证者的组织中发现活性低至对照的5%，并在其父母和舅舅中测定了携带者水平。
相似文献
1
Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.使用人工底物诊断戈谢病的陷阱。
J Clin Pathol. 1978 Nov;31(11):1091-3. doi: 10.1136/jcp.31.11.1091.
2
beta-Glucosidase assays in the diagnosis of Gaucher's disease.β-葡萄糖苷酶检测在戈谢病诊断中的应用
Clin Chem. 1982 Apr;28(4 Pt 1):569-77.
3
Comparison of various beta-glucosidase assays used to diagnose Gaucher's disease.用于诊断戈谢病的各种β-葡萄糖苷酶检测方法的比较。
Clin Chim Acta. 1980 Jul 17;105(1):41-50. doi: 10.1016/0009-8981(80)90090-x.
4
Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.肝脏中4-甲基伞形酮基-β-葡萄糖苷酶活性正常的神经性戈谢病。
Pediatr Res. 1977 May;11(5):641-6. doi: 10.1203/00006450-197705000-00004.
5
Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytes.在培养的皮肤成纤维细胞和白细胞中诊断戈谢病。
J Inherit Metab Dis. 1978;1(3):111-3. doi: 10.1007/BF01805685.
6
A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.一种改良的荧光测定法，用于戈谢病诊断，该方法使用环氧壳二糖醇，并以肝脏作为β-葡萄糖苷酶的来源。
Clin Chim Acta. 1980 Sep 25;106(2):155-63. doi: 10.1016/0009-8981(80)90168-0.
7
Acid beta-glucosidase and the diagnosis of Gaucher's disease in liver and spleen.酸性β-葡萄糖苷酶与肝脏和脾脏中戈谢病的诊断
Clin Chim Acta. 1978 Aug 1;87(3):433-40. doi: 10.1016/0009-8981(78)90189-4.
8
Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.戈谢病：使用未标记的天然鞘脂底物N-棕榈酰二氢葡萄糖脑苷脂准确鉴定无症状法裔加拿大携带者。
Am J Med Genet. 1987 Aug;27(4):895-905. doi: 10.1002/ajmg.1320270416.
9
beta-Glucosidase activities in the Norrbotten type of juvenile Gaucher's disease.诺尔伯特型青少年戈谢病中的β-葡萄糖苷酶活性
Acta Neurol Scand. 1978 Aug;58(2):89-94. doi: 10.1111/j.1600-0404.1978.tb02865.x.
10
Gaucher's disease II. Studies on the kinetics of beta-glucosidase and the effects of sodium taurocholate in normal and Gaucher tissues.戈谢病II型。正常组织和戈谢组织中β-葡萄糖苷酶动力学及牛磺胆酸钠作用的研究。
Pediatr Res. 1980 Jan;14(1):54-9. doi: 10.1203/00006450-198001000-00013.
引用本文的文献
1
In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling.原位可视化人皮肤组织中的葡萄糖脑苷脂酶：酶谱法与基于活性探针标记法的比较。
J Lipid Res. 2017 Dec;58(12):2299-2309. doi: 10.1194/jlr.M079376. Epub 2017 Oct 12.
2
The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.非溶酶体β-葡萄糖苷酶 GBA2 是内质网 (ER) 和高尔基体上的一种非整合膜相关蛋白。
J Biol Chem. 2013 Feb 1;288(5):3381-93. doi: 10.1074/jbc.M112.414714. Epub 2012 Dec 17.
3
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.一种使用天然底物葡萄糖神经酰胺的高通量葡萄糖脑苷脂酶测定法。
Anal Bioanal Chem. 2012 Jan;402(2):731-9. doi: 10.1007/s00216-011-5496-z. Epub 2011 Oct 28.
4
5
Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.戈谢病纯合子和杂合子中的白细胞β-葡萄糖苷酶
Am J Hum Genet. 1980 Mar;32(2):158-73.
6
Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.戈谢病：磷脂酰丝氨酸对正常成纤维细胞和戈谢病成纤维细胞中葡萄糖脑苷脂酶的影响。
Hum Genet. 1984;67(4):432-6. doi: 10.1007/BF00291405.
本文引用的文献
1
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.葡萄糖脑苷脂的代谢。II. 戈谢病中酶缺乏的证据。
Biochem Biophys Res Commun. 1965 Jan 18;18:221-5. doi: 10.1016/0006-291x(65)90743-6.
2
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.利用少量静脉血样本诊断戈谢病和尼曼-皮克病。
Science. 1967 Jan 6;155(3758):86-8. doi: 10.1126/science.155.3758.86.
3
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.戈谢病纯合子和杂合子成纤维细胞中的β-葡萄糖苷酶活性。
Am J Hum Genet. 1971 Jan;23(1):62-6.
4
5
N-hexyl-O-glucosyl sphingosine, an inhibitor of glucosyl ceramide -glucosidase.N-己基-O-葡萄糖基鞘氨醇，一种葡糖神经酰胺-葡糖苷酶抑制剂。
J Lipid Res. 1973 Mar;14(2):133-7.
6
Separation of beta-galactosidases and beta-glucosidases from human liver.从人肝脏中分离β-半乳糖苷酶和β-葡萄糖苷酶。
Enzyme. 1976;21(4):332-41. doi: 10.1159/000458876.
7
Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.肝脏中4-甲基伞形酮基-β-葡萄糖苷酶活性正常的神经性戈谢病。
Pediatr Res. 1977 May;11(5):641-6. doi: 10.1203/00006450-197705000-00004.
8
Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.GM1神经节苷脂贮积症中酶缺陷交叉反应物质的定量分析。
Am J Hum Genet. 1977 Nov;29(6):575-80.
9
The diagnosis of Gaucher's disease in liver using 4-methylumbelliferyl-beta-D-glucopyranoside.使用4-甲基伞形酮基-β-D-吡喃葡萄糖苷对肝脏中的戈谢病进行诊断。
Clin Chim Acta. 1977 Feb 15;75(1):155-61. doi: 10.1016/0009-8981(77)90512-5.
Zotero 插件