Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Marques‐da‐Silva, Dorinda; Ferreira, V. dos Reis; Monticelli, Maria; Janeiro, Patrícia; Videira, Paula A.; Witters, Peter; Jaeken, Jaak; Cassiman, David

doi:10.1007/s10545-016-0012-4

Cited by 88 publications

(101 citation statements)

References 71 publications

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“…In the severe infantile type, liver failure was often present in the setting of multi‐organ failure often associated with pericardial effusions. Postmortem histologic examination can show cholestasis with prominent bile canaliculi, periportal fibrosis, portoportal bridging fibrosis or cirrhosis and steatosis …”

Section: Systems Summaries and Statementsmentioning

confidence: 99%

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

115

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Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.

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Section: Systems Summaries and Statementsmentioning

confidence: 99%

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Altassan

Péanne

Jaeken

et al. 2019

J of Inher Metab Disea

115

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“…Although there is a clear cause‐effect mechanism linking glycosylation defects and immune dysfunction in some CDG, the complexity and multiorgan involvement often observed in these disorders foster other possible mechanisms for such alterations. It cannot be excluded that in some CDG patients, immunological manifestations may arise as collateral complications (ie, hypogammaglobulinemia secondary to nephrotic syndrome) or have a multifactorial origin . For instance, in SLC39A8‐CDG, intracellular Mn 2+ levels are decreased which impacts the galactosyltransferase activity.…”

Section: Discussionmentioning

confidence: 97%

“…In a cohort study with 39 patients, 28% presented immunological involvement, including recurrent and/or severe infections and fever episodes (Ng et al 2016) . Hypogammaglobulinemia was identified in some patients, likely secondary to protein loss due to nephrotic syndrome …”

Section: The Immunological Impact Of Glycosylation Defects—an Update mentioning

confidence: 99%

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CDG and immune response: From bedside to bench and back

Pascoal

Francisco

Ferro

et al. 2019

J of Inher Metab Disea

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Glycosylation is an essential biological process that adds structural and functional diversity to cells and molecules, participating in physiological processes such as immunity. The immune response is driven and modulated by protein‐attached glycans that mediate cell‐cell interactions, pathogen recognition and cell activation. Therefore, abnormal glycosylation can be associated with deranged immune responses. Within human diseases presenting immunological defects are congenital disorders of glycosylation (CDG), a family of around 130 rare and complex genetic diseases. In this review, we have identified 23 CDG with immunological involvement, characterized by an increased propensity to—often life‐threatening—infection. Inflammatory and autoimmune complications were found in 7 CDG types. CDG natural history(ies) and the mechanisms behind the immunological anomalies are still poorly understood. However, in some cases, alterations in pathogen recognition and intracellular signaling (eg, TGF‐β1, NFAT, and NF‐κB) have been suggested. Targeted therapies to restore immune defects are only available for PGM3‐CDG and SLC35C1‐CDG. Fostering research on glycoimmunology may elucidate the involved pathophysiological mechanisms and open new therapeutic avenues, thus improving CDG patients' quality of life.

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“…Известно более 130 врожденных нарушений гликозилирования [3][4][5]. Различают дефекты N-гликозилирования белков; дефекты O-гликозилирования белков; множественные N-и O-дефекты гликозилирования; дефекты синтеза гликолипидов и гликозилфосфатидилинозитола [4,[6][7][8][9].…”

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Congenital disorder of glycosilation PMM2-CDG

Камалова

Шакирова²,

Шайдуллина

et al. 2019

Ross. vestn. perinatol. pediatr.

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Congenital glycosylation disorders represent a group of genetically determined diseases which violate the synthesis and addition of glycans to glycoproteins and glycolipids, and also the synthesis of glycosylphosphatidyl inositol. The most common defects are the defects of protein N-glycosylation. Jaken syndrome, a congenital disorder of PMM2-CDG glycosylation, is the most commonly diagnosed type (about 800 cases worldwide). However, there are only a few descriptions of clinical cases in the Russian literature. The article presents a clinical observation of a child with this type of congenital glycosylation disorder due to a defect in phosphomannomtase 2 (PMM2 gene). The diagnose was based on the combination of clinical, laboratory and instrumental data: a characteristic phenotype, hyperinsulinism, delayed physical and psychomotor development, neurological manifestations, coagulopathy, liver damage, exudative enteropathy, abnormal forms of transferrin, PMM2 gene mutations associated with Jaken’s syndrome. For the first time the authors described positive clinical and laboratory dynamics due to the inclusion of D-mannose to the therapy for this type of congenital glycosylation disorder.

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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Cited by 88 publications

References 71 publications

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

CDG and immune response: From bedside to bench and back

Congenital disorder of glycosilation PMM2-CDG

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