Report of an Iranian child with developmental motor delay and renal and hepatic complications diagnosed as a Glycogen storage disease type 1a: A case report

Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic. Case presentation: Given that the patient was not examined and diagnosed prior to referral to our clinic, mitochondrial disease due to developmental delay, high lactate levels, and lack of hypoglycemia was treated first. Given the fact that the patient’s clinical presentation could not be justified by repeat testing, DNA analysis showed evidence in favor of glucose-6-phosphatase deficiency. The result of the genetic analysis reported a known mutation of c.G193C (P.A65P). Conclusion: Because of the prevalence of this disease, GSD-1a should be considered in children with unexplained hypoglycemia and/or hepatomegaly. Proper metabolic control and prohibition of hypoglycemia should aim to reach the desired point.