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糖原累积症是一组由调节糖原分解和/或糖异生的酶缺乏而导致的遗传代谢病。根据欧洲数据显示,糖原累积症的发病率为0.04%~0.05%。由于此疾病发病率低以及临床表现不典型,因此需要更多的研究来明确糖原累积症的诊断和治疗。到目前为止,医学营养治疗已成为一种改善患者临床结局的有效措施。本文介绍四例糖原累积症患者的各种临床表现,包括低血糖、肝脏肿大、脾脏肿大以及生长迟缓结合检索到相关国内外文献,以期为内科医师及儿科医师提供针对于此病的标准化营养干预路径。
Glycogenosis is a group of inherited metabolic diseases caused by an enzyme deficiency that regulates glycogen breakdown and / or gluconeogenesis. According to European data, the incidence of glycogenosis is 0.04% ~ 0.05%. Due to the low incidence of this disease and the clinical manifestations of atypical, so more research is needed to clarify glycogenosis diagnosis and treatment. So far, medical nutrition therapy has become an effective measure to improve the patient’s clinical outcome. This article describes the four cases of glycogenosis in patients with various clinical manifestations, including hypoglycemia, enlargement of the liver, splenomegaly and growth retardation associated with the retrieval of relevant domestic and foreign literature, in order to provide physicians and pediatricians with the disease Standardized nutrition intervention path.