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Ia型先天性糖基化障碍患者低聚糖基化的稳定

Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.

作者信息

Hahn S H, Minnich S J, O'Brien J F

机构信息

Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

出版信息

J Inherit Metab Dis. 2006 Feb;29(1):235-7. doi: 10.1007/s10545-006-0210-6.

DOI:10.1007/s10545-006-0210-6
PMID:16601903
Abstract

A follow-up over 7 years on a patient with congenital disorder of glycosylation type Ia showed a significant normalization of hypoglycosylated transferrin. Isoelectric focusing for serum transferrin is a widely used screening method but there could be a limit of detection and the subtle changes can be also overlooked. Re-test with a different method is desirable, especially when the clinical suspicion for congenital disorder of glycosylation is high.

摘要

对一名Ia型先天性糖基化障碍患者进行的7年随访显示，低糖化转铁蛋白显著恢复正常。血清转铁蛋白的等电聚焦是一种广泛使用的筛查方法，但可能存在检测限，细微变化也可能被忽视。尤其是当临床高度怀疑先天性糖基化障碍时，采用不同方法重新检测是可取的。

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本文引用的文献

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Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.先天性糖基化障碍：分子基础、临床表现及特异性治疗的综述
Eur J Pediatr. 2003 Jun;162(6):359-79. doi: 10.1007/s00431-002-1136-0. Epub 2003 Mar 15.
2
Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry.通过免疫亲和液相色谱和电喷雾质谱法快速测定转铁蛋白异构体
Clin Chem. 2001 Mar;47(3):513-8.
3
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
ALG11-先天性糖基化障碍导致的胎儿大脑发育停滞。
Pediatr Neurol. 2019 May;94:64-69. doi: 10.1016/j.pediatrneurol.2018.12.009. Epub 2018 Dec 24.
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Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).两名 PMM2-CDG（糖基化缺陷病 Ia 型）患者的轻度临床和生化表型。
Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y.
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Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.糖基化位点的转铁蛋白突变使 I 型先天性糖基化紊乱的诊断复杂化。
J Inherit Metab Dis. 2011 Aug;34(4):901-6. doi: 10.1007/s10545-011-9311-y. Epub 2011 Mar 23.
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在糖基化先天性疾病Ia中，蛋白质N-糖基化缺陷具有组织依赖性。
Glycobiology. 2000 Dec;10(12):1277-81. doi: 10.1093/glycob/10.12.1277.
4
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.磷酸甘露糖异构酶缺乏是I型糖缺乏性糖蛋白综合征的一个病因。
FEBS Lett. 1995 Dec 27;377(3):318-20. doi: 10.1016/0014-5793(95)01357-1.