Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver

Lipiński, Patryk; Cielecka-Kuszyk, Joanna; Czarnowska, E.; Bogdańska, Anna; Socha, Piotr; Tylki‐Szymańska, Anna

doi:10.1016/j.pedneo.2021.01.017

Cited by 7 publications

(15 citation statements)

References 17 publications

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“…An increased amount of glycogen was observed in two of these persons, and in one of them, electron microscopy revealed glycogen deposits in hepatocytes. In our previous study on histological and ultrastructural liver involvement in various CDG, significant ultrastructural abnormalities in hepatocytes with anomalies of the endoplasmic reticulum and mitochondria, and the accumulation of glycogen and lamellar deposits in cytoplasm were found in in the PGM1-CDG patient ( 21 ).…”

Section: Discussionmentioning

confidence: 85%

“…In one PMM2-CDG patient, the histopathological analysis comprised liver autopsy samples. Detailed histopathological studies were recently published ( 21 , 23 ).…”

Section: Resultsmentioning

confidence: 99%

“…In some patients, including one of our NGLY1-CDDG patients, liver biopsy revealed a cytoplasmic storage of amorphous material (with staining properties similar to glycogen) or vacuolization in hepatocytes consistent with the storage ( 5 ). In our latest article, we put forward a hypothesis that the presence of cytoplasmic storage of amorphous periodic acid-Schiff positive material digested by diastases reflects the storage of misfolded and probably not degraded N-glycosylated proteins ( 21 ).…”

Section: Discussionmentioning

confidence: 99%

“…The study involved 39 patients (from 35 families) with CDG, and two patients (from two families) with NGLY1-CDDG, confirmed molecularly. Detailed clinical, biochemical and molecular characteristics were recently published (20)(21)(22). All study patients were diagnosed and followed-up in Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.…”

Section: Methodsmentioning

confidence: 99%

“…In one PMM2-CDG patient, the histopathological analysis comprised liver autopsy samples. Detailed histopathological studies were recently published (21,23). The foamy degeneration of hepatocytes and liver steatosis (micro-as well as macro-vesicular) were observed in 4 out of 5 CDG cases.…”

Section: Histological Phenotypementioning

confidence: 99%

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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

et al. 2021

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Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them. The aim of the study was to characterize the liver phenotype in CDG and NGLY1-CDDG patients hospitalized in our Institute, and to find the most specific features of liver disease among them.Material and Methods: The study involved 39 patients (from 35 families) with CDG, and two patients (from two families) with NGLY1-CDDG, confirmed molecularly, for whom detailed characteristics of liver involvement were available. They were enrolled based on the retrospective analysis of their medical records.Results: At the time of the first consultation, 13/32 patients were diagnosed with hepatomegaly; none of them with splenomegaly. As many as 23/32 persons had elevated serum transaminases, including 16 (70%) who had mildly elevated levels. During the long-term follow-up (available for 19 patients), serum transaminases normalized in 15/19 (79%) of them, including a spontaneous normalization in 12/15 (80%) of them. The GGT activity was observed to be normal in all study cases. Protein C, protein S and antithrombin activities in plasma were observed in 16 patients, and they were decreased in all of them.Conclusions: It is necessary to conduct a long-term follow-up of liver disease in CDG to obtain comprehensive data.

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Section: Discussionmentioning

confidence: 85%

“…In one PMM2-CDG patient, the histopathological analysis comprised liver autopsy samples. Detailed histopathological studies were recently published ( 21 , 23 ).…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Histological Phenotypementioning

confidence: 99%

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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

et al. 2021

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A rare case ofSRD5A3‐CDGin a patient with ataxia and telangiectasia: A case report

Nabavizadeh

Noeiaghdam

Johari

et al. 2022

Clinical Case Reports

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Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.

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Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations

Holubova,

Barone,

Grunewald

et al. 2024

J of Inher Metab Disea

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Cardiac involvement (CI) in phosphomannomutase 2‐congenital disorders of glycosylation (PMM2‐CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype–phenotype correlation with organ involvement has not yet been described. We analyzed clinical, biochemical, and molecular genetic data of 222 patients from eight European centers and characterized the natural course of patients with CI. Fifty‐seven patients (45 children) presented with CI, of whom 24 died (median age 21 months, standard deviation 49.8). Pericardial effusion was the most frequent manifestation (55.4%), occurring mostly within the first 6 months of life. The most common pathogenic variants in patients with CI were p.(Arg141His) in 74%, followed by p.(Val231Met) in 36%, which is 3.5 times higher than in PMM2‐CDG patients without CI (p < 0.0001). Twenty‐one out of 36 patients with p.(Val231Met) had CI; among them, 15 died, compared to 33 out of 166 patients without p.(Val231Met) who had CI (p < 0.0001). Nine out of 33 patients died (p = 0.0015), indicating greater clinical severity. Furthermore, the p.(Val231Met) variant is predominant in Eastern Europe, suggesting a founder effect. Cardiac complications in PMM2‐CDG patients are common and serious. The variant p.(Val231Met) profoundly influences the extent of CI and mortality rates. Therefore, we recommend cardiac surveillance be included in the follow‐up protocols for PMM2‐CDG.

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Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver

Cited by 7 publications

References 17 publications

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

A rare case ofSRD5A3‐CDGin a patient with ataxia and telangiectasia: A case report

Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations

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