Abstract:
Objective To summarize clinical characteristics of both adult and pediatric patients with glycogen storage disease type Ⅰa (GSDⅠa), and to improve clinicaians' understanding of GSDⅠa.
Methods The clinical data of 10 patients diagnosed with GSDⅠa at Zhongshan Hospital, Fudan University between 2010 and 2023 were collected, including 5 adults and 5 children. The clinical manifestations and biochemical characteristics of the two groups were compared.
Results Both adult and pediatric GSDⅠa patients had hypertriglyceridemia, hyperuricemia, and hyperlactatemia. More adult patients had hepatic adenoma (5 cases) and gout (4 cases), while more pediatric patients had hypoglycemia (3 cases), hepatomegaly (4 cases), and growth retardation (3 cases).
Conclusions The GSDⅠa patients often have abnormal metabolic syndrome, mainly including hypertriglyceridemia, hyperuricemia and hyperlactatemia. Adult patients are often complicated with hepatic adenomas, and may have hypoglycemia or fasting glucose close to normal low value, and a combination of such clinical manifestations may be used as a diagnostic basis for adult GSDⅠa patients.
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