伴有低血糖的先天遗传代谢性疾病长期营养管理

Long-term nutritional management of inherited metabolic disorders with hypoglycemia

新生儿筛查的广泛开展使得先天遗传代谢性疾病患者确诊人数不断增加。先天遗传代谢性疾病种类繁多,其中部分伴有发作性或持续性低血糖。严重的低血糖发作可能加重代谢危象和脑及视力损害。饮食疗法是先天遗传代谢性疾病的主要治疗手段。正确的饮食管理可在减少甚至避免低血糖发作的同时维持正常的生长和发育,限制有害的代谢产物,提高患者生活质量。营养管理应贯穿患者整个生命周期。现就伴有低血糖的先天遗传代谢性疾病的长期营养管理现状进行阐述,并提出建议。

The development of newborn screening has led to the diagnosis of an expanding population of patients with inherited metabolic disorders.There are many types of inherited metabolic diseases,some of which are accompanied by episodic or persistent hypoglycemia.Severe episodes of hypoglycemia may aggravate metabolic crisis,as well as brain and vision damage.Nutritional management is the main treatment for inherited metabolic diseases.Correct diet management can reduce or even avoid hypoglycemia attacks while maintaining normal growth and development,inhibit the generation of harmful metabolites,and improve the quality of life of patients.Patients with inherited metabolic disorders complicated by hypoglycemia should adhere to nutrition management throughout their entire life.In this article,the current status of chronic nutritional management of inherited metabolic diseases with hypoglycemia was reviewed and related recommendations were made.