Jamil Sajjad, Ahmed Shahid, Tariq Muhammad
Department of Medicine, Aga Khan University Hospital, Karachi.
J Pak Med Assoc. 2011 Aug;61(8):821-3.
Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He was diagnosed to have acid maltase deficiency, also known as Pompe's disease, one of the rare types of glycogen storage disease. The case is presented here in the form of a case study, including a review of the pertinent literature on the subject. This case has the potential to be the first reported case of such a disease from Pakistan (to the best of our knowledge).
编码参与糖原合成、降解或调节的蛋白质的基因突变会导致各种先天性糖原代谢紊乱。导致糖原异常储存的疾病被称为糖原贮积病（GSD）。我们报告了一例罕见且有趣的病例，一名小男孩自幼出现全身无力和肌肉量减少。他被诊断为酸性麦芽糖酶缺乏症，也称为庞贝病，这是一种罕见的糖原贮积病类型。本文以病例研究的形式呈现该病例，包括对该主题相关文献的综述。据我们所知，该病例有可能是巴基斯坦首例报告的此类疾病。
