肌腺苷酸脱氨酶缺乏症、肥厚型心肌病和巨人症综合征
Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.
作者信息
Skyllouriotis M L, Marx M, Bittner R E, Skyllouriotis P, Gross M, Wimmer M
机构信息
Department of Pediatric Cardiology, University of Vienna, Austria.
出版信息
Pediatr Neurol. 1997 Jul;17(1):61-6. doi: 10.1016/s0887-8994(97)00076-3.
We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.
我们报告了一名20岁男性，自幼患有巨人症综合征、肥厚型心肌病、肌肉无力、运动不耐受和严重精神运动发育迟缓。骨骼肌活检的组织化学和生化分析显示肌腺苷脱氨酶缺乏；分子遗传学分析证实了原发性（遗传性）肌腺苷脱氨酶缺乏的诊断。血浆、尿液和肌肉中的肉碱浓度降低。左旋肉碱治疗使运动耐量和认知能力逐渐改善；血浆和组织中的肉碱水平恢复正常，左心室肥厚的超声心动图证据消失。遗传性肌腺苷脱氨酶缺乏、巨人症综合征和肉碱缺乏的组合此前尚未见报道。
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