Abstract: Objective　To summarize the clinical，laboratory examination and gene mutation characteristics and prognosis of glycogen storage disease type Ⅸa （GSD Ⅸa），and to strengthen the understanding of this type of disease. Methods　The clinical，laboratory examination，gene mutation and prognosis of 18 children with GSD Ⅸa who were genetically diagnosed at the Guangzhou Women and Childrens Medical Center from September 2016 to September 2020 were retrospectively analyzed. Results　The 18 children were all male，and the median age of onset was 1 year and 10 months. All children had hepatomegaly and elevated transaminase and there were 8 cases of short stature （44.44%），11 cases of hypoglycemia （61.11%），7 cases of hypertriglyceridemia （38.89%），6 cases of hypercholesterolemia （33.33%）and 12 cases of hyperlactic acidemia （66.67%）. A total of 17 mutations were detected，all of which were hemizygous mutations，and most were missense mutations；10 were unknown mutations not reported，of which 2 were novel mutations. Nine cases underwent liver biopsy，and the pathological results were consistent with typical GSD manifestations；4 cases （44.44%） were accompanied by focal fibrous hyperplasia in the portal area；6 cases （66.67%） had hepatocellular steatosis. Except for one untreated child，all the other children were given improved diet and oral raw corn starch，and their clinical and biochemical manifestations were improved. Conclusion　Hepatomegaly and elevated transaminases are highly correlated with GSD Ⅸa，and genetic testing can confirm the diagnosis and classification. Most of the disease has a good prognosis，but some may progress to liver fibrosis，and follow-up needs to be strengthened.

Key words: glycogen storage disease, clinical features, prognosis, gene mutation

摘要： 目的　总结糖原累积病Ⅸa型（GSD Ⅸa）的临床、实验室检查、基因突变特点及预后，加强对该类疾病的认识。方法　对2016年9月至2020年9月在广州市妇女儿童医疗中心经基因检测确诊的18例GSD Ⅸa型患儿的临床、实验室检查、基因突变及预后资料进行回顾性分析。结果　18例患儿均为男性，发病中位年龄为1岁10月龄。18例均有肝肿大及转氨酶升高；矮小8例（44.44%）；空腹血糖低11例（61.11%）；高甘油三酯血症7例（38.89%）；高胆固醇血症6例（33.33%）；高乳酸血症12例（66.67%）。共检出17种突变，均为半合突变，以错义突变为主，10种为未见报道的突变，其中2种为新发突变。9例进行了肝活检，病理结果均符合典型GSD表现，4例（44.44％）伴有汇管区灶性纤维增生；6例（66.67％）有肝细胞脂肪变性。除1例未治疗外其余患儿均给予改善饮食、口服生玉米淀粉，临床及生化表现均有改善。结论　肝肿大、转氨酶升高与GSD Ⅸa型高度相关，基因检测可明确诊断及分型。该病多数预后好，但部分可能会进展为肝纤维化，需加强随访。

关键词: 糖原累积病, 临床特征, 预后, 基因突变