Schejbal P, Kutzner M, Delank H W, Gullotta F
Schweiz Arch Neurol Psychiatr (1985). 1986;137(3):39-47.
Adult acid maltase deficiency (AMD, glycogen storage disease type II) may involve respiratory muscles leading to severe respiratory failure even before the affection of pelvic girdle muscles has turned the patient non-ambulatory. The case of a 29-year-old woman is presented to demonstrate that long-term survival is possible even after acute respiratory failure has occurred. The examination of the patient's family revealed the diagnosis of AMD in her 24-year-old sister, so far without clinical symptoms. The comparison between the two patients of serum enzyme elevations (CK, LDH, GOT, GPT, aldolase) suggested that both physical activity and the stage of the disease may be correlated with the degree of enzyme level elevation.
成人酸性麦芽糖酶缺乏症（AMD，糖原贮积病II型）可能累及呼吸肌，甚至在骨盆带肌肉受累导致患者无法行走之前就引发严重呼吸衰竭。本文介绍了一名29岁女性的病例，以证明即使在发生急性呼吸衰竭后仍有可能长期存活。对患者家族的检查发现其24岁的妹妹被诊断为AMD，目前尚无临床症状。对这两名患者血清酶升高情况（肌酸激酶、乳酸脱氢酶、谷草转氨酶、谷丙转氨酶、醛缩酶）的比较表明，体力活动和疾病阶段可能与酶水平升高程度相关。
