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Congenital disorder of glycosylation with developmental anomaly

MedGen UID:
1842970
•Concept ID:
C5680018
•
Disease or Syndrome
Synonym: CDG with developmental anomaly
 
Orphanet: ORPHA371235

Professional guidelines

PubMed

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC
J Inherit Metab Dis 2022 Sep;45(5):969-980. Epub 2022 Jun 30 doi: 10.1002/jimd.12527. PMID: 35716054Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B
Am J Hum Genet 2019 May 2;104(5):835-846. Epub 2019 Apr 11 doi: 10.1016/j.ajhg.2019.03.003. PMID: 30982613Free PMC Article

Recent clinical studies

Etiology

2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM
Genes (Basel) 2022 Mar 12;13(3) doi: 10.3390/genes13030508. PMID: 35328062Free 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
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM, Palace J, Beeson D
Int J Mol Sci 2018 Jun 5;19(6) doi: 10.3390/ijms19061677. PMID: 29874875Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Diagnosis

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM
Genes (Basel) 2022 Mar 12;13(3) doi: 10.3390/genes13030508. PMID: 35328062Free 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
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Therapy

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E
Mol Genet Metab 2023 Jun;139(2):107606. Epub 2023 May 9 doi: 10.1016/j.ymgme.2023.107606. PMID: 37224763Free PMC Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B
Am J Hum Genet 2019 May 2;104(5):835-846. Epub 2019 Apr 11 doi: 10.1016/j.ajhg.2019.03.003. PMID: 30982613Free PMC Article
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E
Genet Med 2017 Nov;19(11):1226-1235. Epub 2017 Jun 15 doi: 10.1038/gim.2017.41. PMID: 28617415Free PMC Article
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
Palladino AA, Bennett MJ, Stanley CA
Clin Chem 2008 Feb;54(2):256-63. Epub 2007 Dec 21 doi: 10.1373/clinchem.2007.098988. PMID: 18156285

Prognosis

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):530-538. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0641. PMID: 37042760
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M
J Inherit Metab Dis 2023 Mar;46(2):300-312. Epub 2023 Jan 29 doi: 10.1002/jimd.12589. PMID: 36651831Free 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
Congenital muscular dystrophies.
Kirschner J
Handb Clin Neurol 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. PMID: 23622361

Clinical prediction guides

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review.
Hutny M, Lipinski P, Jezela-Stanek A
Genes (Basel) 2023 May 31;14(6) doi: 10.3390/genes14061208. PMID: 37372388Free PMC Article
Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M
J Pediatr Endocrinol Metab 2023 Jun 27;36(6):530-538. Epub 2023 Apr 13 doi: 10.1515/jpem-2022-0641. PMID: 37042760
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.
Van Scherpenzeel M, Willems E, Lefeber DJ
Glycoconj J 2016 Jun;33(3):345-58. Epub 2016 Jan 7 doi: 10.1007/s10719-015-9639-x. PMID: 26739145Free PMC Article
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase.
Zhang L, Müller T, Baenziger JU, Janecke AR
Prog Mol Biol Transl Sci 2010;93:289-307. doi: 10.1016/S1877-1173(10)93012-3. PMID: 20807649

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.
Colantuono R, D'Acunto E, Melis D, Vajro P, Freeze HH, Mandato C
J Pediatr Gastroenterol Nutr 2021 Oct 1;73(4):444-454. doi: 10.1097/MPG.0000000000003209. PMID: 34173795Free PMC Article
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886
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

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