Adult Form of Acid Maltase Deficiency First Manifested as Repeated Hypercapnic Respiratory Failure-A Case Report

以反覆高二氧化碳呼吸衰竭為表現的成人型酸性麥芽糖酵素缺乏症－一病例報告

洪一民(I-Min Hung) ； 陳志弘(Chih-Hung Chen) ； 羅榮昇(Long-Sun Ro) ； 蔡熒煌(Ying-Huang Tsai) ； 吳燿光(Yao-Kuang Wu)

《胸腔醫學》 20卷6期 (2005/12) Pp. 658-663

https://doi.org/10.29806/TM.200512.0021

摘要

酸性麥芽糖酵素缺乏症在成人當中是一個罕見的遺傳染色體隱性疾病。因為肝醣分解酵素缺乏而造成肝醣的堆積，最主要造成骨骼肌無力及呼吸衰竭。我們報告一個病例以反覆高二氧化碳性呼吸衰竭及近端肌肉無力為表現，神經傳導速率測驗、肌電圖及神經反覆性刺激測試確定為肌肉病變。最後經由肌肉切片、特殊染色及最後的單核球酸性麥芽糖酵素定量分析，確定為酸性麥芽糖酵素缺乏症。高二氣化碳型呼吸衰竭對臨床醫師是常見的一種表現，對於反覆性發作及肺部疾病不足以解釋臨床表徵時，神經肌肉系統病變仍然是需要我們高度警覺。

關鍵字

酸性麥芽糖酵素缺乏症 ； 呼吸衰竭 ； 肝醣堆積症

並列摘要

Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults. It is characterized by a glycolysis enzyme (acid maltase) deficiency, mainly involving the glycogen-stored rich tissue, and may result in skeletal muscle weakness and respiratory failure. We report a 41-year-old man with adult onset AMD with an initial presentation of repeated hypercapnic respiratory failure and episodic proximal muscle weakness, without lung parenchymal or airway disease. Nerve conduction velocity and electromyography tests both indicated myopathy. Muscle biopsy finally confirmed the diagnosis of AMD. Hypercapnic respiratory failure is a syndrome commonly seen by pulmonary and critical care clinicians. Neuromuscular disorders, especially myopathies, should be highly suspected in a respiratory failure patient without lung disease.

並列關鍵字

acid maltase deficiency ； respiratory failure ； glycogen storage disease