Glycogen Storage Disease Type Ia, Different Clinical Manifestations and Outcome: A Case Series

Document Type : Case Report

Authors
Naser Ali Mirhosseini 1 , 2 , 3
Shima Mirhosseini 4
Majid Aflatoonian 1
Maryam Saeida-Ardekani 3
1 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2 Department of Pediatrics, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4 Department of Biology, Faculty of Science, Yazd University, Yazd, Iran
10.18502/wjpn.v5i2.11998
Abstract
Background: Conversion of glucose-6-phosphate to glucose is the final step in both glycogenolysis and gluconeogenesis. In glycogen storage disease type Ia (GSD type Ia), decreased activity of the enzyme glucose-6-phosphatase leads to an increased concentration of glucose-6-phosphate within the hepatocytes and shunting into alternative pathway with the following consequences: hyperlactatemia, hyperuricemia and hypertriglyceridemia. Patients develop hypoglycemia within 3 to 4 hours after a meal.
Case Report: We reported four patients with GSD type Ia with different clinical manifestations such as hypoglycemia, hepatomegaly, lactic acidosis, hyperchylomicronemia, and hyperuricemia and also described their prognosis.
Conclusion: Previously, many children with GSD Ia died in infancy or early childhood. Recurrent severe hypoglycemia can cause brain damage, but the prognosis has improved dramatically with early diagnosis and long term maintenance of optimal metabolic control.
Keywords
Glycogen storage disease type I
Glucose-6-phosphatase
Hypoglycemia
Clinical manifestations
Outcome
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Journal of Integrated Maternal and Pediatric Care
Volume 5, Issue 2
December 2022
Pages 102-106

  • Receive Date 29 December 2022