PDF(Pubmed)
Abstract：
BACKGROUND: Glycogen storage disease type 0a (GSD0a) is a rare autosomal recessive disorder caused by glycogen synthase deficiency. Short stature is a characteristic feature in 29% of GSD0a patients, but isolated short stature as the only presenting symptom is exceedingly rare, with only 2 cases reported worldwide.
METHODS: A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.
METHODS: Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.
METHODS: Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.
RESULTS: After 3 years of treatment, the patient\'s height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.
CONCLUSIONS: This case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.
METHODS: A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.
METHODS: Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.
METHODS: Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.
RESULTS: After 3 years of treatment, the patient\'s height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.
CONCLUSIONS: This case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.
摘要：
背景：糖原贮积病0a型（GSD0a）是一种由糖原合成酶缺乏引起的罕见常染色体隐性遗传疾病。身材矮小是29%的GSD0a患者的特征，但是孤立的身材矮小作为唯一的症状非常罕见，全球仅报告2例。
方法：一名4岁女孩，尽管以前曾治疗过肾小管酸中毒，但仍表现为持续生长迟缓。
方法：根据临床表现和全外显子组测序结果，患者被诊断为GSD0a.
方法：未煮熟的玉米淀粉治疗以2g/kg每6小时开始。
结果：治疗3年后，患者的身高SDS从-2.24改善至-1.06，血糖控制增强且无并发症。
结论：本案例强调考虑GSD0a身材矮小和连续血糖监测的价值。早期诊断和治疗可以优化GSD0a患者的生长。
方法：一名4岁女孩，尽管以前曾治疗过肾小管酸中毒，但仍表现为持续生长迟缓。
方法：根据临床表现和全外显子组测序结果，患者被诊断为GSD0a.
方法：未煮熟的玉米淀粉治疗以2g/kg每6小时开始。
结果：治疗3年后，患者的身高SDS从-2.24改善至-1.06，血糖控制增强且无并发症。
结论：本案例强调考虑GSD0a身材矮小和连续血糖监测的价值。早期诊断和治疗可以优化GSD0a患者的生长。
