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An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.一名患有神经肝脏受累、高胆固醇血症和低铜蓝蛋白血症的儿童的不明原因先天性糖基化障碍-II型。
JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.
2
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Congenital disorders of glycosylation with emphasis on cerebellar involvement.以小脑受累为重点的先天性糖基化障碍
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Congenital disorders of glycosylation.先天性糖基化障碍。
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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.骨发育异常是三名患有新型II型先天性糖基化障碍（CDG）患者的关键特征，该疾病由TMEM165基因的一个内含子深处剪接突变所致。
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本文引用的文献

1
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.ATP6AP1 缺陷导致免疫缺陷伴肝病变、认知障碍和蛋白质糖基化异常。
Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.
2
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.用于研究糖肌营养不良症和先天性糖基化障碍的全球血清糖型分析
Mol Genet Metab Rep. 2016 Apr 17;7:55-62. doi: 10.1016/j.ymgmr.2016.03.002. eCollection 2016 Jun.
3
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.CCDC115基因缺陷导致高尔基体稳态紊乱及蛋白质糖基化异常。
Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.
4
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.跨膜蛋白199缺陷是一种高尔基体稳态紊乱疾病，其特征为转氨酶、碱性磷酸酶和胆固醇升高以及糖基化异常。
Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.
5
Multiple phenotypes in phosphoglucomutase 1 deficiency.磷酸葡糖变位酶 1 缺乏症的多种表型。
N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.
6
Congenital disorders of glycosylation and intellectual disability.先天性糖基化障碍与智力残疾
Dev Disabil Res Rev. 2013;17(3):211-25. doi: 10.1002/ddrr.1115.
7
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.用于鉴定新型 CDG 的纯合子定位和外显子测序方法。
Glycoconj J. 2013 Jan;30(1):67-76. doi: 10.1007/s10719-012-9445-7. Epub 2012 Sep 15.
8
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.由先天性糖基化障碍（CDG）Ⅱx 型引起的长期轻度转氨酸升高。
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S437-40. doi: 10.1007/s10545-008-1004-9. Epub 2008 Dec 9.
9
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.四名儿童的隐源性肝病：一种新型糖基化先天性疾病。
Pediatr Res. 2006 Feb;59(2):293-8. doi: 10.1203/01.pdr.0000196378.30165.26.
10
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.先天性糖基化障碍-IL型：一名患有ALG9基因新突变及其他表型特征的婴儿。
Am J Med Genet A. 2005 Jul 15;136(2):194-7. doi: 10.1002/ajmg.a.30851.

一名患有神经肝脏受累、高胆固醇血症和低铜蓝蛋白血症的儿童的不明原因先天性糖基化障碍-II型。

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

作者信息

Calvo Pier Luigi, Spada Marco, Rabbone Ivana, Pinon Michele, Porta Francesco, Cisarò Fabio, Reggiani Stefania, Cefalù Angelo B, Sturiale Luisella, Garozzo Domenico, Lefeber Dirk J, Jaeken Jaak

机构信息

Pediatric Gastroenterology Unit, Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Piazza Polonia 94, Torino, 10126, Italy.

Department of Pediatrics, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza di Torino, University of Torino, Torino, Italy.

出版信息

JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.

DOI:10.1007/8904_2017_35
PMID:28643274
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5874206/
Abstract

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since the biological parents of this adopted child were not available.

摘要

我们报告了一名12岁的领养男孩，他有精神运动障碍、失神发作，脑部MRI正常。他的血清胆固醇升高（但最初在5个月时正常）、碱性磷酸酶升高、转氨酶短暂升高以及血浆铜蓝蛋白血症，血清和尿铜正常。免疫球蛋白、触珠蛋白、抗凝血酶和因子XI的血液水平正常。2型血清转铁蛋白等电聚焦和载脂蛋白CIII的低糖基化表明存在N-糖基化和O-糖基化联合缺陷。对79个与先天性糖基化障碍（CDG）相关基因进行的CDG检测板分析以及全外显子测序均未揭示该CDG的病因。由于该领养儿童的生物学父母无法联系到，因此未进行全基因组测序。