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

Naser Ali Mirhosseini; Shima Mirhosseini; Majid Aflatoonian; Maryam  Saeida-Ardekani

doi:10.18502/wjpn.v5i2.11998

Naser Ali Mirhosseini Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Shima Mirhosseini Department of Pediatrics, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Majid Aflatoonian Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Maryam Saeida-Ardekani Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

DOI: https://doi.org/10.18502/wjpn.v5i2.11998

Keywords: Glycogen storage disease type I; Glucose-6-phosphatase; Hypoglycemia; Clinical manifestations; Outcome

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 glucose6-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.