Clinical and biochemical characteristics of glycogen storage disease in Bangladeshi children from a tertiary care center

Abstract

Abstract Background: Glycogen storage diseases (GSDs) are a group of metabolic diseases that results in aberrant glycogen metabolism due to genetic abnormalities of various enzymes. Glycogen degradation disorders primarily affect the liver, muscles, or both, which are the most seriously affected organs. Aim: This study aimed to determine the clinical and biochemical characteristics of GSD in children at Pediatric Gastroenterology and Nutrition Department, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh. Materials and Methods: This cross-sectional study was conducted over a period of 1 year and 6 months from October 2021 to March 2023. All children diagnosed with GSD on liver biopsy were enrolled in the study. Results: Among 437 children, 21 (4.8%) had a clinical diagnosis of GSD. The mean age at presentation to BSMMU was 2.3 ± 1.3 years. The male-to-female ratio was 1:1.1. Hepatomegaly was the primary cause of abdominal distension in all 21 patients (100%), whereas splenomegaly was found in nine (41.8%) patients. No patient had exhibited jaundice. One patient (4.7%) had experienced delayed development. The levels of serum glutamic-pyruvic transaminase and uric acid were both increased in 16 (76.1%) and 20 (95.2%) patients, respectively. Around 4.7% of cases had neutropenia, hypoglycemia, and nephromegaly. Eighteen (85.7%) patients had short stature. Cirrhotic changes were absent in liver biopsy though periportal fibrosis was detected in 4 (19%) of the individuals. Conclusions: Children with GSD commonly present with short stature, hypertriglyceridemia, and hyperuricemia. Histopathology of the liver remains the preferred diagnostic means in Bangladesh.