RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature.

Abstract

In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.

• Authors: Rahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, David M Lowe, Michael Ashworth, Marco Novelli, Roshni Vara, Aine Merwick, Halima Amer, Reecha Sofat, Max Sugarman, Ana Jovanovic, Mark Roberts, Vasiliki Nakou, Andrew King, Istvan Bodi, Heinz Jungbluth, Anders Oldfors, Elaine Murphy
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 43 Issue 5 Pg. 1002-1013 (09 2020) ISSN: 1573-2665 [Electronic] United States
• PMID: 32187699 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2020 SSIEM.

Chemical References

• Glucans
• Transcription Factors
• polyglucosan
• RBCK1 protein, human
• Ubiquitin-Protein Ligases

Topics

• Child
• Child, Preschool
• Female
• Glucans (metabolism)
• Glycogen Storage Disease (genetics, metabolism)
• Humans
• Inflammation (pathology)
• Male
• Muscle, Skeletal (pathology)
• Muscular Diseases (pathology)
• Reinfection (pathology)
• Transcription Factors (genetics)
• Ubiquitin-Protein Ligases (genetics)