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Disorder of multiple glycosylation

MedGen UID:
1843364
•Concept ID:
C5681039
•
Disease or Syndrome
Synonym: disorder of multiple glycosylation
 
Monarch Initiative: MONDO:0017749
Orphanet: ORPHA309526

Professional guidelines

PubMed

Genotype-Phenotype Correlations in PMM2-CDG.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P
Genes (Basel) 2021 Oct 21;12(11) doi: 10.3390/genes12111658. PMID: 34828263Free PMC Article
Emerging technologies for the management of type 2 diabetes mellitus.
Shah NA, Levy CJ
J Diabetes 2021 Sep;13(9):713-724. Epub 2021 May 11 doi: 10.1111/1753-0407.13188. PMID: 33909352
Treatment of periodontal disease for glycaemic control in people with diabetes mellitus.
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article

Recent clinical studies

Etiology

Gut microbiome and metabolome profiling in Framingham heart study reveals cholesterol-metabolizing bacteria.
Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
Mendelian randomization of circulating proteome identifies actionable targets in heart failure.
Moncla LM, Mathieu S, Sylla MS, Bossé Y, Thériault S, Arsenault BJ, Mathieu P
BMC Genomics 2022 Aug 13;23(1):588. doi: 10.1186/s12864-022-08811-2. PMID: 35964012Free PMC Article
Diabetes and Ischemic Stroke: An Old and New Relationship an Overview of the Close Interaction between These Diseases.
Maida CD, Daidone M, Pacinella G, Norrito RL, Pinto A, Tuttolomondo A
Int J Mol Sci 2022 Feb 21;23(4) doi: 10.3390/ijms23042397. PMID: 35216512Free PMC Article
Hyperandrogenemia and insulin resistance: The chief culprit of polycystic ovary syndrome.
Wang J, Wu D, Guo H, Li M
Life Sci 2019 Nov 1;236:116940. Epub 2019 Oct 8 doi: 10.1016/j.lfs.2019.116940. PMID: 31604107
Decoding cell death signals in liver inflammation.
Brenner C, Galluzzi L, Kepp O, Kroemer G
J Hepatol 2013 Sep;59(3):583-94. Epub 2013 Apr 6 doi: 10.1016/j.jhep.2013.03.033. PMID: 23567086

Diagnosis

Gut microbiome and metabolome profiling in Framingham heart study reveals cholesterol-metabolizing bacteria.
Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Identification and Clinical Validation of Key Extracellular Proteins as the Potential Biomarkers in Relapsing-Remitting Multiple Sclerosis.
Li M, Chen H, Yin P, Song J, Jiang F, Tang Z, Fan X, Xu C, Wang Y, Xue Y, Han B, Wang H, Li G, Zhong D
Front Immunol 2021;12:753929. Epub 2021 Dec 7 doi: 10.3389/fimmu.2021.753929. PMID: 34950135Free PMC Article
Apolipoprotein D.
Rassart E, Desmarais F, Najyb O, Bergeron KF, Mounier C
Gene 2020 Sep 25;756:144874. Epub 2020 Jun 15 doi: 10.1016/j.gene.2020.144874. PMID: 32554047Free PMC Article
Treatment of periodontal disease for glycaemic control in people with diabetes mellitus.
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article

Therapy

Safety and tolerability of KAN-101, a liver-targeted immune tolerance therapy, in patients with coeliac disease (ACeD): a phase 1 trial.
Murray JA, Wassaf D, Dunn K, Arora S, Winkle P, Stacey H, Cooper S, Goldstein KE, Manchanda R, Kontos S, Grebe KM
Lancet Gastroenterol Hepatol 2023 Aug;8(8):735-747. Epub 2023 Jun 14 doi: 10.1016/S2468-1253(23)00107-3. PMID: 37329900
Mendelian randomization of circulating proteome identifies actionable targets in heart failure.
Moncla LM, Mathieu S, Sylla MS, Bossé Y, Thériault S, Arsenault BJ, Mathieu P
BMC Genomics 2022 Aug 13;23(1):588. doi: 10.1186/s12864-022-08811-2. PMID: 35964012Free PMC Article
Inflammation in IgA nephropathy.
Rauen T, Floege J
Pediatr Nephrol 2017 Dec;32(12):2215-2224. Epub 2017 Mar 14 doi: 10.1007/s00467-017-3628-1. PMID: 28293726
Treatment of periodontal disease for glycaemic control in people with diabetes mellitus.
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article
Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes.
Gaede P, Vedel P, Larsen N, Jensen GV, Parving HH, Pedersen O
N Engl J Med 2003 Jan 30;348(5):383-93. doi: 10.1056/NEJMoa021778. PMID: 12556541

Prognosis

Gut microbiome and metabolome profiling in Framingham heart study reveals cholesterol-metabolizing bacteria.
Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
IL-7: Comprehensive review.
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Identification and Clinical Validation of Key Extracellular Proteins as the Potential Biomarkers in Relapsing-Remitting Multiple Sclerosis.
Li M, Chen H, Yin P, Song J, Jiang F, Tang Z, Fan X, Xu C, Wang Y, Xue Y, Han B, Wang H, Li G, Zhong D
Front Immunol 2021;12:753929. Epub 2021 Dec 7 doi: 10.3389/fimmu.2021.753929. PMID: 34950135Free PMC Article
Molecular aspects of aquaporins.
Li S, Li C, Wang W
Vitam Horm 2020;113:129-181. Epub 2019 Nov 8 doi: 10.1016/bs.vh.2019.08.019. PMID: 32138947

Clinical prediction guides

Gut microbiome and metabolome profiling in Framingham heart study reveals cholesterol-metabolizing bacteria.
Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
IL-7: Comprehensive review.
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Diabetes and Ischemic Stroke: An Old and New Relationship an Overview of the Close Interaction between These Diseases.
Maida CD, Daidone M, Pacinella G, Norrito RL, Pinto A, Tuttolomondo A
Int J Mol Sci 2022 Feb 21;23(4) doi: 10.3390/ijms23042397. PMID: 35216512Free PMC Article
ATM loss disrupts the autophagy-lysosomal pathway.
Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K
Autophagy 2021 Aug;17(8):1998-2010. Epub 2020 Aug 14 doi: 10.1080/15548627.2020.1805860. PMID: 32757690Free PMC Article
Treatment of periodontal disease for glycaemic control in people with diabetes mellitus.
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article

Recent systematic reviews

The effect of integrated health care in patients with hypertension and diabetes: a systematic review and meta-analysis.
Zhao Y, Ma Y, Zhao C, Lu J, Jiang H, Cao Y, Xu Y
BMC Health Serv Res 2022 May 5;22(1):603. doi: 10.1186/s12913-022-07838-1. PMID: 35513809Free PMC Article
Mechanisms determining the amelioration of rheumatoid arthritis in pregnancy: A systematic review.
Raine C, Austin K, Giles I
Semin Arthritis Rheum 2020 Dec;50(6):1357-1369. Epub 2020 Mar 19 doi: 10.1016/j.semarthrit.2020.03.006. PMID: 32224046
Treatment of periodontal disease for glycaemic control in people with diabetes mellitus.
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732
Continuous subcutaneous insulin infusion (CSII) versus multiple insulin injections for type 1 diabetes mellitus.
Misso ML, Egberts KJ, Page M, O'Connor D, Shaw J
Cochrane Database Syst Rev 2010 Jan 20;(1):CD005103. doi: 10.1002/14651858.CD005103.pub2. PMID: 20091571

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      Disorder of multiple glycosylation
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