关键词： ALG1 ALG1 pseudogenes ALT AST AT-III Alanine-aminotransferase Antithrombin-III Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)=chitobiosyldiphosphodolichol beta-mannosyltransferase Aspartate aminotransferase C-reactive protein (reacting with C-polysaccharide of Pneumococcus) CDG CDT CEPH CHE CK CK-MB CPAP CRP Carbohydrate deficient transferrin Centre d'Etude du Polymorphisme Humain Cholinesterase Congenital disorder of glycosylation type Ik Congenital disorders of glycosylation Continuous positive airway pressure Creatine kinase Creatine kinase - muscle-brain, i.e. myocardial subtype of CK DMEM DMSO DNA complementary to RNA DPAGT1 Demethylsulfoxide Deoxyribonucleoside triphosphate Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 Dulbecco's Modified Eagle's Medium EDTA Ethylenediaminetetraacetic acid GDP GLDH GOT GPT Glc GlcNAc Glucose Glutamate dehydrogenase Glutamic oxaloacetic transaminase Glutamic-pyruvic transaminase Guanosine diphosphate HMT1 HPLC High performance liquid chromatography Human mannosyltransferase 1 Hypoglycosylation Hypoproteinemia IEF IGF1 IGFBP3 IMPP IgG Immunoglobulin G Immunoprecipitation Insulin-like growth factor 1 Insulin-like growth factor-binding protein 3 Isoelectric focusing Kilodaltons LLO Lipid-linked oligosaccharides MEM Man Mannose Minimum essential medium N-acetyl-d-glucosamine PAGE PBS PCR PP Phosphate buffered saline Polyacrylamide-gel electrophoresis Polymerase chain reaction Pyrophosphate RER Rough endoplasmic reticulum SDS Seizures Sodium dodecyl sulfate cDNA dNTP kDa

Mesh ： Amino Acid Sequence Congenital Disorders of Glycosylation / genetics Fatal Outcome Glycosylation Humans Infant Male Mannosyltransferases / genetics Molecular Sequence Data Mutation Sequence Alignment

来  源：   DOI：10.1016/j.gene.2013.10.013   PDF(Sci-hub)

Abstract：
Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases. The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as ALG1-CDG (CDG-Ik). The phenotypical, molecular and biochemical analysis of a severely affected ALG1-CDG patient is the focus of this paper. The patient\'s main symptoms were feeding problems and diarrhea, profound hypoproteinemia with massive ascites, muscular hypertonia, seizures refractory to treatment, recurrent episodes of apnoea, cardiac and hepatic involvement and coagulation anomalies. Compound heterozygosity for the mutations c.1145T>C (M382T) and c.1312C>T (R438W) was detected in the patient\'s ALG1-coding sequence. In contrast to a previously reported speculation on R438W we confirmed both mutations as disease-causing in ALG1-CDG.
摘要：
先天性糖基化障碍(CDG)是越来越多的遗传性代谢障碍,其中糖脂和/或糖蛋白的形成或加工中的酶缺陷导致多种不同的疾病。GDP-Man的缺乏：GlcNAc2-PP-dolichol甘露糖基转移酶，由来自酵母的ALG1的人类直系同源物编码，被称为ALG1-CDG(CDG-Ik)。表型，1例严重影响的ALG1-CDG患者的分子和生化分析是本文的重点。病人的主要症状是喂养问题和腹泻，深度低蛋白血症伴有大量腹水，肌张力增高,难以治疗的癫痫发作，反复发作的呼吸暂停,心脏和肝脏受累和凝血异常。在患者的ALG1编码序列中检测到突变c.1145T>C(M382T)和c.1312C>T(R438W)的复合杂合性。与先前报道的对R438W的推测相反，我们证实了这两种突变在ALG1-CDG中是致病的。
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