Clinical and laboratory findings including histopathological and enzymatic analysis in a group of children with glycogen storage disorders

Aim: Glycogen storage disorders (GSD) are a group of inherited metabolic conditions due to variety of deficiencies in the breakdown pathway of the glycogen. Depending on the type liver, heart, or skeletal muscle singly or in combination may be involved. This study was undertaken to determine the specific type of GSD by enzymatic analysis in a group of patients previously diagnosed with GSD based on clinical and histopathological findings.Materials and Methods: All patients previousl diagnosed with GSD at the Pediatric Endocrinology and Metabolism Clinic of the Çukurova University, Faculty of Medicine between 1980 and 2008 were reviewed with respect to their clinical, laboratory, and histopathological findings. Enzymatic analyses for GSD were performed in 28 of the patients.Results: Out of 78 patients, preliminarily diagnosed with GSD were able to locate 39 with full data. These have the following clinical findings: hepatomegaly in 33 (85%), splenomegaly in 19, doll face in 20 (51%), growth failure in 21 (53%), intolerance to exercise in 7 (17%), myopathy in 5 (13%), and cardiomyopathy in 4 (10%). Twenty-seven patients had histopathological evidence of GSD including 15 of cirrhosis or pre-cirrhosis. Enzymatic analyses revealed the type of GSD as type I in 3 (7,6 %), type III in 12 (30 %), and type IV in 7 (17,9 %) while in 4 cases (10,2 %) type of the GSD could not be determined.Conclusion: Overall clinical and laboratory findings of our patients were consistent with those in the literature. Remarkably we found an unexpectedly high rate of type III in our cohort.