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Congenital disorder of glycosylation with hepatic involvement

MedGen UID:
1843224
•Concept ID:
C5679910
•
Disease or Syndrome
Synonym: CDG with hepatic involvement
 
Orphanet: ORPHA371157

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
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T
J Inherit Metab Dis 2020 Jul;43(4):671-693. Epub 2020 Apr 21 doi: 10.1002/jimd.12241. PMID: 32266963Free PMC Article

Recent clinical studies

Etiology

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E
Mol Genet Metab 2023 Apr;138(4):107559. Epub 2023 Mar 17 doi: 10.1016/j.ymgme.2023.107559. PMID: 36965289Free PMC Article
SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J
J Coll Physicians Surg Pak 2022 Dec;32(12):SS221-SS226. doi: 10.29271/jcpsp.2022.Supp0.SS221. PMID: 36597345
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
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ
Am J Hum Genet 2016 Feb 4;98(2):322-30. Epub 2016 Jan 28 doi: 10.1016/j.ajhg.2015.12.011. PMID: 26833330Free PMC Article
Endocrine manifestations related to inherited metabolic diseases in adults.
Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C
Orphanet J Rare Dis 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. PMID: 22284844Free PMC Article

Diagnosis

SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J
J Coll Physicians Surg Pak 2022 Dec;32(12):SS221-SS226. doi: 10.29271/jcpsp.2022.Supp0.SS221. PMID: 36597345
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
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T
J Inherit Metab Dis 2020 Jul;43(4):671-693. Epub 2020 Apr 21 doi: 10.1002/jimd.12241. PMID: 32266963Free PMC Article
Endocrine manifestations related to inherited metabolic diseases in adults.
Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C
Orphanet J Rare Dis 2012 Jan 28;7:11. doi: 10.1186/1750-1172-7-11. PMID: 22284844Free PMC Article
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article

Therapy

Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
Damen G, de Klerk H, Huijmans J, den Hollander J, Sinaasappel M
J Pediatr Gastroenterol Nutr 2004 Mar;38(3):282-7. doi: 10.1097/00005176-200403000-00010. PMID: 15076627
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article

Prognosis

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E
Mol Genet Metab 2023 Apr;138(4):107559. Epub 2023 Mar 17 doi: 10.1016/j.ymgme.2023.107559. PMID: 36965289Free PMC Article
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H
J Inherit Metab Dis 2020 Jul;43(4):694-700. Epub 2020 Apr 7 doi: 10.1002/jimd.12237. PMID: 32216104Free PMC Article
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A
Mol Genet Metab 2018 Jul;124(3):228-235. Epub 2018 May 9 doi: 10.1016/j.ymgme.2018.05.002. PMID: 29759592
Neurology of inherited glycosylation disorders.
Freeze HH, Eklund EA, Ng BG, Patterson MC
Lancet Neurol 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6. PMID: 22516080Free PMC Article
Carbohydrate-deficient glycoprotein syndromes.
Gordon N
Postgrad Med J 2000 Mar;76(893):145-9. doi: 10.1136/pmj.76.893.145. PMID: 10684323Free PMC Article

Clinical prediction guides

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
Rosato BE, Marra R, D'Onofrio V, Del Giudice F, Della Monica S, Iolascon A, Andolfo I, Russo R
Int J Mol Sci 2022 Jan 24;23(3) doi: 10.3390/ijms23031304. PMID: 35163229Free PMC Article
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N, Honzik T, Vondrackova A, Stranecky V, Tesarova M, Zeman J, Hansikova H
J Inherit Metab Dis 2020 Jul;43(4):694-700. Epub 2020 Apr 7 doi: 10.1002/jimd.12237. PMID: 32216104Free PMC Article

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