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Congenital disorder of glycosylation(CDG)

MedGen UID:
76469
•Concept ID:
C0282577
•
Disease or Syndrome
Synonyms: Carbohydrate-deficient glycoprotein syndrome; CDG; Congenital disorders of glycosylation
SNOMED CT: Carbohydrate deficiency glycoprotein syndrome (238049009); Carbohydrate deficient glycoprotein syndrome (238049009); Carbohydrate-deficient glycoprotein syndrome (238049009); CDG - Carbohydrate-deficient glycoprotein syndrome (238049009); Congenital disorder of glycosylation (238049009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Genes (locations): ALG13 (Xq23); DDOST (1p36.12); DPM2 (9q34.11); MAGT1 (Xq21.1); PGM1 (1p31.3); SSR4 (Xq28); TMEM165 (4q12); TUSC3 (8p22)
Related genes: ALG11, COG7, RFT1, ALG2, COG8, ALG9, SRD5A3, ALG12, ALG8, COG6, ALG1, NGLY1, SLC35C1, DPM3, ALG6, COG4, DOLK, SLC35A1, COG5, ALG3, MPDU1, COG1, DPM1, MOGS, PMM2, MPI, MGAT2, MAN2C1, B4GALT1, DPAGT1
 
Monarch Initiative: MONDO:0015286
Orphanet: ORPHA137

Definition

A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Congenital disorder of glycosylation in Orphanet.

Professional guidelines

PubMed

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.
Chen C, Sang Y
Front Endocrinol (Lausanne) 2022;13:1102307. Epub 2023 Jan 16 doi: 10.3389/fendo.2022.1102307. PMID: 36726472Free 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
New and potential strategies for the treatment of PMM2-CDG.
Gámez A, Serrano M, Gallego D, Vilas A, Pérez B
Biochim Biophys Acta Gen Subj 2020 Nov;1864(11):129686. Epub 2020 Jul 23 doi: 10.1016/j.bbagen.2020.129686. PMID: 32712172

Recent clinical studies

Etiology

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G
Hum Mol Genet 2022 Aug 17;31(15):2571-2581. doi: 10.1093/hmg/ddac055. PMID: 35262690Free 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
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K
Curr Neurol Neurosci Rep 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. PMID: 31089831Free PMC Article
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
What is new in CDG?
Jaeken J, Péanne R
J Inherit Metab Dis 2017 Jul;40(4):569-586. Epub 2017 May 8 doi: 10.1007/s10545-017-0050-6. PMID: 28484880

Diagnosis

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
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K
Curr Neurol Neurosci Rep 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. PMID: 31089831Free PMC Article
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
What is new in CDG?
Jaeken J, Péanne R
J Inherit Metab Dis 2017 Jul;40(4):569-586. Epub 2017 May 8 doi: 10.1007/s10545-017-0050-6. PMID: 28484880
Leukocyte adhesion deficiencies.
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991

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
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E
Ann Neurol 2021 Dec;90(6):887-900. Epub 2021 Oct 26 doi: 10.1002/ana.26245. PMID: 34652821Free 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
New and potential strategies for the treatment of PMM2-CDG.
Gámez A, Serrano M, Gallego D, Vilas A, Pérez B
Biochim Biophys Acta Gen Subj 2020 Nov;1864(11):129686. Epub 2020 Jul 23 doi: 10.1016/j.bbagen.2020.129686. PMID: 32712172
Protein misfolding diseases: Prospects of pharmacological treatment.
Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B
Clin Genet 2018 Mar;93(3):450-458. Epub 2017 Dec 4 doi: 10.1111/cge.13088. PMID: 28671287

Prognosis

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
Sabry S, Eissa NR, Zaki MS
BMC Res Notes 2023 Apr 17;16(1):53. doi: 10.1186/s13104-023-06314-1. PMID: 37069668Free PMC Article
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
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E
Ann Neurol 2021 Dec;90(6):887-900. Epub 2021 Oct 26 doi: 10.1002/ana.26245. PMID: 34652821Free PMC Article
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Leukocyte adhesion deficiencies.
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991

Clinical prediction guides

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T
Genes (Basel) 2023 Aug 4;14(8) doi: 10.3390/genes14081585. PMID: 37628636Free PMC Article
Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
Sabry S, Eissa NR, Zaki MS
BMC Res Notes 2023 Apr 17;16(1):53. doi: 10.1186/s13104-023-06314-1. PMID: 37069668Free PMC Article
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW, Czajewski I, van Aalten DMF
J Biol Chem 2022 Sep;298(9):102276. Epub 2022 Jul 19 doi: 10.1016/j.jbc.2022.102276. PMID: 35863433Free PMC Article
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E
Ann Neurol 2021 Dec;90(6):887-900. Epub 2021 Oct 26 doi: 10.1002/ana.26245. PMID: 34652821Free PMC Article

Recent systematic reviews

Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
Ji C, Zhao J, Zhang J, Wang K
Neurol Sci 2023 Oct;44(10):3495-3498. Epub 2023 May 30 doi: 10.1007/s10072-023-06851-4. PMID: 37249665
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T
Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7. Epub 2010 Jun 22 doi: 10.1016/j.ymgme.2010.06.009. PMID: 20638314

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