Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

  • Sibtain Ahmed Department of Pathology & Laboratory Medicine, the Aga Khan University Karachi
  • Bushra Afroze Department of Paediatrics & Child Health, the Aga Khan University, Karachi
Keywords: Glycogen Storage Diseases, Molecular Testing, Diagnostic Approach

Abstract

The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are neither cost effective nor convenient. Molecular (gene testing) has emerged over the course of past few years as a robust alternative diagnostic tool, which not only confirms the diagnosis of GSDs but also clearly differentiates the types of GSDs allowing the initiation of the type-specific appropriate treatment for the particular type of GSDs. The aim of this update is to highlight the limitations of undertaking a liver biopsy for the diagnosis of GSDs; and to further describe the pros of the molecular testing for better patient centered care.

doi: https://doi.org/10.12669/pjms.36.2.1310

How to cite this:
Ahmed S, Afroze B. Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing. Pak J Med Sci. 2020;36(2):290-292. doi: https://doi.org/10.12669/pjms.36.2.1310

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Biographies

Sibtain Ahmed, Department of Pathology & Laboratory Medicine, the Aga Khan University Karachi

Senior Instructor and Consultant Chemical Pathology

Bushra Afroze, Department of Paediatrics & Child Health, the Aga Khan University, Karachi

Associate Professor & Clinical Biochemical Geneticist

Published
2019-12-16
Section
Short Communication