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目的 揭示目前北京某综合医院住院糖原累积症(GSD)患者代谢异常的特点、营养评价及干预现状,为进一步强化GSD营养管理提供研究依据和参考.方法 连续纳入2013年1月1日至2016年1月1日在北京协和医院住院诊治GSD的患者共22例,对临床资料及其营养评定、营养干预及随访状况进行总结及回顾性评价.结果 纳入GSD患者22例(Ⅰa型2例、Ⅰb型3例、Ⅲ型17例),包括1例18岁的青少年男性及21例儿童(包含2例月龄分别为6及7个月的婴儿).生化代谢状况:GSD-Ⅰ患者普遍存在低血糖(5/5)、高乳酸血症(4/5)、高脂血症(4/5)、高尿酸血症(4/5);GSD-Ⅲ患者中,也可见低血糖(17/17)、高乳酸血症(5/17)、高脂血症(7/17)、高尿酸血症(3/17)的发生.生长发育情况:5例GSD-Ⅰ患者中,4例体质量小于第10百分位,5例身高均小于第3百分位;17例GSD-Ⅲ患者中,4例体质量小于第10百分位,9例身高小于第10百分位.营养干预状况:所有患者均进行营养评价、膳食干预或营养支持.1例月龄6个月的GSD-Ⅰ婴儿及1例7个月的GSD-Ⅲ婴儿在母乳以外给予氨基酸型肠内营养配方制剂少量多次规律喂养;其他较大月龄的儿童或少儿患者在普通膳食外给予生玉米淀粉规律口服,平均单次起始剂量分别为(1.58±0.28)g(GSD-Ⅰ)、(1.21±0.33)g(GSD-Ⅲ),每4～6小时给予1次,根据血糖监测情况进行淀粉补充量的调整.所有GSD-Ⅲ患者均按照蛋白质摄入3 g/(kg·d)的要求进行膳食的指导和调整.随访情况:初诊后5例GSD-Ⅰ及2例GSD-Ⅲ患者在本院门诊进行随诊,平均随访时间分别为(480.40±246.16)d(GSD-Ⅰ)、(373.00±108.89)d(GSD-Ⅲ),7例患者均有低血糖症状的减轻,监测空腹血糖、尿酸、血脂及生长发育状况趋于改善.结论 GSD-Ⅰ与GSD-Ⅲ往往有严重的低血糖、代谢紊乱及生长发育落后等临床特点.即使对于GSD-Ⅲ尤其低龄患者也需避免忽视对于血糖等生化代谢状况的评价.对GSD患者进行全面营养评价、规律应用生玉米淀粉、合理蛋白质摄入、持续随访及监测,有助于减轻症状、改善代谢及生长发育状况.“,”Objective To investigate the biochemical disturbances,nutritional assessment and nutritional interventions in hospitalized patients with glycogen storage disease (GSD) in a general hospital in Beijing and provide examples of advanced nutritional management for these patients.Methods We retrospectively reviewed 22 consecutive hospitalized patients with GSD diagnosed from January 1,2013 to January 1,2016 in Peking Union Medical College Hospital and analyzed their medical data,nutritional assessments,and interventions.Results These 22 GSD patients included 2 cases with GSD-Ⅰa,3 cases with GSD-Ⅰb,and 17 cases with GSD-Ⅲ.They were composed of 21 children (including a 6-month old infant and a 7-month old infant) and one 18-yearold man.Biochemical abnormalities:hypoglycemia (5/5),hyperlactacidemia (4/5),hyperlipidemia (4/5),hyperuricemia (4/5) were common in GSD-Ⅰ patients,while hypoglycemia (17/17),hyperlactacidemia (5/17),hyperlipidemia (7/17),and hyperuricemia (3/17) were also present among patients with GSD-Ⅲ.Growth and development assessments:among 5 patients with GSD-Ⅰ,the body weight was below the 10th percentile in of 4 patients and the height was below the 3rd percentile in 5 patients;among 17 patients with GSD-Ⅲ,the body weight was below the 10th percentile in 4 patients and the height was below the 10th percentile in 9 patients.Nutritional management condition:all the patients received nutritional assessment,dietary modulation and nutritional support.Twenty children or adolescents were prescribed with raw corn starch (RCS) every 4-6 hours,with a mean initial dose of (1.58±0.28) g and (1.21±0.33) g for patients with GSD-Ⅰ and GSD-Ⅲ,respectively;the other 2 infant aged 6-month old and 7-month old were regularly administered amino acid-based enteral nutritional agents.In addition,all the patients with GSD-Ⅲ were recommended high protein intake of 3 g/(kg · d) and received dietary guidance and modulation.Follow-up condition:5 cases with GSD-Ⅰ and 2 cases with GSD-Ⅲ stayed in track after discharge from our hospital.The mean follow-up duration was (480.40±246.16) d and (373.00± 108.89) d for patients with GSD-Ⅰ and GSD-Ⅲ,respectively.All the patients reported alleviated symptom of hypoglycemia,and the examinations also indicated improved fasting blood glucose,uric acid,lipid profile,and growth status.Conelusions Hypoglycemia,metabolic disturbances,and growth retardation are prevalent in both GSD-Ⅰ and GSD-Ⅲ patients.Potential biochemical abnormalities should not be ignored in GSD-Ⅲ patients,especially in young patients.Comprehensive nutrition assessment,regular administration of RCS,sufficient protein intake,and continuous patient follow-up and surveillance can help to alleviate symptoms,correct metabolic disturbances,and improve growth status of patients with GSD.