Glycogen Storage Disease in Pediatric Population

Abstract

Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases (GSD) most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common. Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly. Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population. Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management.

Medium-Chain Triglyceride Oil and Dietary Intervention Improved Body Composition and Metabolic Parameters in Children with Glycogen Storage Disease Type 1 in Jordan: A Clinical Trial

“…Patients who do not receive treatment may suffer from long-term complications, such as hepatic adenomas, renal disease, pancreatitis and changes in brain function [19,27]. Some may have anaemia and rickets [6,13,28,29], while others may develop systemic hypertension and carcinoma prognosis of the hepatic adenoma and gout due to high levels of uric acid [16,30,31] and bleeding diathesis due to platelet dysfunction [8,29,30]. However, these complications can be minimised by adequate management and controlled metabolic profiles [2,15].…”