伴有低血糖的先天性代谢缺陷：糖原贮积病和糖异生遗传性疾病。
Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis.
作者信息
Weinstein David A, Steuerwald Ulrike, De Souza Carolina F M, Derks Terry G J
机构信息
University of Connecticut School of Medicine, Farmington, CT, USA; Glycogen Storage Disease Program, Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA.
Medical Center, National Hospital System, Torshavn, Faroe Islands.
出版信息
Pediatr Clin North Am. 2018 Apr;65(2):247-265. doi: 10.1016/j.pcl.2017.11.005.
Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and management of the hepatic glycogen storage diseases and disorders of gluconeogenesis are reviewed.
虽然高胰岛素血症是新生儿期低血糖的主要遗传性病因，但代谢性先天性疾病是1个月龄以后低血糖的主要病因。碳水化合物代谢紊乱在禁食时常表现为低血糖。本文综述了肝糖原贮积病和糖异生障碍的临床表现、诊断及治疗。
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