Nijmegen Paediatric CDG Rating Scale: a Novel Tool to Assess Disease Progression

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2011 May 5

PMID 21541726

Citations 39

Authors

Samira Achouitar

Miski Mohamed

Thatjana Gardeitchik

Saskia B Wortmann

Jolanta Sykut-Cegielska

Regina Ensenauer

Helene Ogier de Baulny

Katrin Ounap

Diego Martinelli

Maaike de Vries

Robert McFarland

Dorus Kouwenberg

Miranda Theodore

Frits Wijburg

Stephanie Grunewald

Jaak Jaeken

Ron A Wevers

Leo Nijtmans

Joanna Elson

Eva Morava

Affiliations

Soon will be listed here.

Abstract

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by patients. To date, no multicentre studies have attempted to document the natural history of CDG. This is in part due to the lack of a reliable assessment tool to score CDG's diverse clinical spectrum. Based on our earlier experience evaluating disease progression in disorders of oxidative phosphorylation, we developed a practical and semi-quantitative rating scale for children with CDG. The Nijmegen Paediatric CDG Rating Scale (NPCRS) has been validated in 12 children, offering a tool to objectively monitor disease progression. We undertook a successful trial of the NPCRS with a collaboration of nine experienced physicians, using video records of physical and neurological examination of patients. The use of NPCRS can facilitate both longitudinal and natural history studies that will be essential for future interventions.

Citing Articles

Causes of mortality in the congenital disorders of glycosylation.

Alharbi H, Horikoshi S, Jenkins S, Scaglia F, Lam C, Morava E Mol Genet Metab. 2025; 144(3):109052.

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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 G, Larson A, Sarafoglou K, Andersson H Mol Genet Metab. 2024; 142(4):108509.

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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R, Hope K, Edmondson A, Shah R, Patino M, Yesso A Mol Genet Metab. 2024; 142(4):108513.

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HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.

Golloshi K, Mitchell W, Kumar D, Malik S, Parikh S, Aljudi A J Clin Immunol. 2024; 44(7):153.

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Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Bosnyak I, Sadek M, Ranatunga W, Kozicz T, Morava E JIMD Rep. 2024; 65(3):135-143.

PMID: 38736633 PMC: 11078713. DOI: 10.1002/jmd2.12415.

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