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Congenital disorders of glycosylation type II

MedGen UID:
852155
•Concept ID:
CN234782
•
Disease or Syndrome

Professional guidelines

PubMed

Amniotic fluid α-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia.
Marklová E, Albahri Z
Clin Chem Lab Med 2010 Sep;48(9):1281-5. doi: 10.1515/CCLM.2010.265. PMID: 20528096
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M
Am J Med Genet 2002 Jun 15;110(2):131-5. doi: 10.1002/ajmg.10423. PMID: 12116250

Recent clinical studies

Etiology

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S
Mol Genet Metab 2017 Mar;120(3):235-242. Epub 2017 Jan 3 doi: 10.1016/j.ymgme.2016.12.014. PMID: 28122681
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E
Acta Biochim Pol 2013;60(3):361-8. Epub 2013 Sep 19 PMID: 24051442
Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation.
Cylwik B, Naklicki M, Chrostek L, Gruszewska E
Acta Biochim Pol 2013;60(2):151-61. Epub 2013 May 31 PMID: 23730680
Congenital disorders of glycosylation.
Woods AG, Woods CW, Snow TM
Adv Neonatal Care 2012 Apr;12(2):90-5. doi: 10.1097/ANC.0b013e318241cb20. PMID: 22469961
Carbohydrate-deficient glycoprotein syndrome.
Krasnewich D, Gahl WA
Adv Pediatr 1997;44:109-40. PMID: 9265969

Diagnosis

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S
Mol Genet Metab 2017 Mar;120(3):235-242. Epub 2017 Jan 3 doi: 10.1016/j.ymgme.2016.12.014. PMID: 28122681
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E
Acta Biochim Pol 2013;60(3):361-8. Epub 2013 Sep 19 PMID: 24051442
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
Congenital disorders of glycosylation.
Woods AG, Woods CW, Snow TM
Adv Neonatal Care 2012 Apr;12(2):90-5. doi: 10.1097/ANC.0b013e318241cb20. PMID: 22469961
Carbohydrate-deficient glycoprotein syndrome.
Krasnewich D, Gahl WA
Adv Pediatr 1997;44:109-40. PMID: 9265969

Therapy

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108509. Epub 2024 Jun 6 doi: 10.1016/j.ymgme.2024.108509. PMID: 38959600Free PMC Article
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium
Ann Neurol 2019 May;85(5):740-751. Epub 2019 Mar 22 doi: 10.1002/ana.25457. PMID: 30873657
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T
Am J Hum Genet 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. PMID: 26637979Free PMC Article
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
Körner C, Lehle L, von Figura K
Glycoconj J 1998 May;15(5):499-505. doi: 10.1023/a:1006939104442. PMID: 9881752

Prognosis

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108509. Epub 2024 Jun 6 doi: 10.1016/j.ymgme.2024.108509. PMID: 38959600Free PMC Article
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
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium
Ann Neurol 2019 May;85(5):740-751. Epub 2019 Mar 22 doi: 10.1002/ana.25457. PMID: 30873657
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
Dulary E, Potelle S, Legrand D, Foulquier F
Tissue Cell 2017 Apr;49(2 Pt A):150-156. Epub 2016 Jun 16 doi: 10.1016/j.tice.2016.06.006. PMID: 27401145
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

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E
Mol Genet Metab 2024 Aug;142(4):108509. Epub 2024 Jun 6 doi: 10.1016/j.ymgme.2024.108509. PMID: 38959600Free PMC Article
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
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.
Vignogna RC, Allocca M, Monticelli M, Norris JW, Steet R, Perlstein EO, Andreotti G, Lang GI
Elife 2022 Oct 10;11 doi: 10.7554/eLife.79346. PMID: 36214454Free PMC Article
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium
Ann Neurol 2019 May;85(5):740-751. Epub 2019 Mar 22 doi: 10.1002/ana.25457. PMID: 30873657
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
Dulary E, Potelle S, Legrand D, Foulquier F
Tissue Cell 2017 Apr;49(2 Pt A):150-156. Epub 2016 Jun 16 doi: 10.1016/j.tice.2016.06.006. PMID: 27401145

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