GSD type IIIA case report

Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, according to the recommendations. Progressively she developed left ventricular obstructive hypertrophy, hepatomegaly and skeletal myopathy. At the age of 11 years, she was introduced KD and continuous ketosis has been maintained for over 4 years providing longest reported follow up to date. KD introduction lead to a normalization of left ventricular parameters and ventricular mass and to an improvement in hepatic injury markers and decrease in liver size.
We provided a table with biochemical parameters, a table providing detailed diet composition, tables with cardiac and hepatic measures and figures depicting cardiac NMR images; all the tables/figures are provided referring to the KD introduction (values prior/after). Interpretation of this data can be found in a case report article titled “Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa”.

本数据集展现了生酮饮食（KD）对糖原储积病IIIa型患者影响的研究，其中包含了迄今为止最长的患者随访报告。一名15岁女孩，于1岁时被诊断为GSD IIIa型，起初按照推荐接受高碳水化合物饮食治疗。随着病情的进展，她逐渐出现了左心室流出道梗阻性肥厚、肝肿大和骨骼肌病。在11岁时，她开始接受KD治疗，并持续维持酮症状态已超过4年，提供了目前最长的随访记录。KD的引入导致左心室参数和心室质量的正常化，以及肝损伤标志物的改善和肝脏大小的减小。我们提供了一张包含生化参数的表格，一张详细描述饮食组成的表格，以及展示心脏和肝脏测量值的表格，还有描绘心脏核磁共振图像的图表；所有表格/图表均以KD的引入为参照（提供了治疗前后的数值）。对此数据的解读可参考题为“在糖原储积病IIIa型患者中，生酮饮食对梗阻性心肌病正常化和肝病的改善”的案例报告文章。