Abstract
Background: Glycogen storage disease type 1a (GSD-1a) is a rare autosomal recessive metabolic disorder caused by a deficiency in the glucose-6-phosphatase enzyme. It commonly presents in infancy with fasting hypoglycemia, hepatomegaly, and metabolic disturbances. In resource-limited settings like Somalia, diagnosis and management are significantly hampered by the lack of advanced diagnostic facilities and nutritional support.
Case presentation: We describe a 16-month-old Somali boy with global developmental delay, recurrent hypoglycemia, and hepatomegaly. Initial biochemical investigations indicated hyperlactatemia, elevated transaminases, and hyperuricemia. Genetic confirmation via whole-exome sequencing identified a homozygous pathogenic variant in the G6PC gene, confirming GSD-1a. Empirical metabolic treatment and nutritional modification using locally available resources resulted in significant clinical improvement.
Conclusion: This case highlights the diagnostic and management challenges of GSD-1a in low-resource settings. Despite the absence of advanced diagnostic infrastructure, clinical recognition, empirical treatment, and adaptive nutritional strategies can lead to favorable outcomes.
Keywords
Glycogen storage disease type 1a, G6PC gene, Somalia, Metabolic disorder, Pediatric hepatomegaly, Hypoglycemia