Mirhosseini, Naser Ali, Mirhosseini, Shima, Aflatoonian, Majid, Saeida-Ardekani, Maryam (2022). Glycogen Storage Disease Type Ia, Different Clinical Manifestations and Outcome: A Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(2), 102-106. doi: 10.18502/wjpn.v5i2.11998
Naser Ali Mirhosseini; Shima Mirhosseini; Majid Aflatoonian; Maryam Saeida-Ardekani. "Glycogen Storage Disease Type Ia, Different Clinical Manifestations and Outcome: A Case Series". Shahid Sadoughi University of Medical Sciences- Journal Management System, 5, 2, 2022, 102-106. doi: 10.18502/wjpn.v5i2.11998
Mirhosseini, Naser Ali, Mirhosseini, Shima, Aflatoonian, Majid, Saeida-Ardekani, Maryam (2022). 'Glycogen Storage Disease Type Ia, Different Clinical Manifestations and Outcome: A Case Series', Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(2), pp. 102-106. doi: 10.18502/wjpn.v5i2.11998
Mirhosseini, Naser Ali, Mirhosseini, Shima, Aflatoonian, Majid, Saeida-Ardekani, Maryam Glycogen Storage Disease Type Ia, Different Clinical Manifestations and Outcome: A Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2022; 5(2): 102-106. doi: 10.18502/wjpn.v5i2.11998

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

Journal of Integrated Maternal and Pediatric Care
Article 8, Volume 5, Issue 2, December 2022, Pages 102-106    PDF (248.61 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v5i2.11998
Authors
Naser Ali Mirhosseini1, 2, 3; Shima Mirhosseini* 4; Majid Aflatoonian1; Maryam Saeida-Ardekani3
1Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Pediatrics, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Department of Biology, Faculty of Science, Yazd University, Yazd, Iran
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
References
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