PDF(Pubmed)
Abstract：
Glycogen storage disease type I (GSDI) is an uncommon condition resulting from a deficiency or absence of glucose-6-phosphatase, a key enzyme in regulating blood glucose levels. In this report, we describe a two-month-old girl diagnosed with GSDI who presented to the emergency department in a tertiary care hospital for irritability, excessive crying, and hyperventilation. She was found to have hepatomegaly and hypoglycemia. Laboratory investigations showed high levels of triglycerides, lactic acid, uric acid, and calcium. The combination of hypertriglyceridemia, hypoglycemia, and hepatomegaly should alert neonatologists and pediatricians to consider GSDI in the diagnosis. Hypercalcemia arose as an unknown problem in GSDI patients and should be considered during acute attacks.
摘要：
糖原贮积病I型（GSDI）是一种罕见的疾病，由葡萄糖-6-磷酸酶的缺乏或缺乏引起。调节血糖水平的关键酶。在这份报告中,我们描述了一个被诊断患有GSDI的两个月大的女孩，她因烦躁而被送到三级护理医院的急诊科，过度哭泣,和过度换气。她被发现有肝肿大和低血糖。实验室调查显示甘油三酯含量高,乳酸,尿酸,和钙。高甘油三酯血症的组合，低血糖,肝肿大应提醒新生儿科医师和儿科医生在诊断时考虑GSDI.在GSDI患者中，高钙血症是一个未知的问题，应在急性发作期间考虑。
