Myoadenylate deaminase deficiency
Myoadenylate deaminase deficiency
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肌腺苷酸脱氨酶缺乏症
DOI：
10.1007/bf01726321
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
A. Bardosi
中科院分区：
文献类型：
--
作者：
H. Goebel;A. Bardosi
肌腺苷脱氨酶(MAD)是嘌呤核苷酸循环中的限速酶，在生物化学上与糖酵解和柠檬酸循环有关，从而在剧烈的肌肉活动中提供能量。在肌肉纤维中，肌腺苷脱氨酶的活性水平比其他器官高得多。首次用酶组织化学方法发现，肌腺苷脱氨酶缺乏症是肌肉中最常见的酶缺陷之一。原发缺陷可以作为一个孤立的疾病实体发生，也可以不是罕见的，它也与多种不同的神经肌肉状况有关。这似乎是主要的无关联的MAD缺乏症，最近变得容易接受高剂量D-核糖的成功治疗。继发性MAD缺乏症可发生在发生结构性损伤的肌肉纤维和肌肉中，如多发性肌炎、肌营养不良和失神经。在过去十年中发现MAD缺乏症以来积累的大量生化、形态学和临床数据提供了MAD缺乏症作为一个真实实体的病理学意义。
SummaryMyoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD deficiency that has recently become amenable to successful treatment with D-ribose in high doses. Secondary MAD deficiency may occur in muscle fibers and muscles that have undergone structural damage as seen, for instance, in polymyositis, muscular dystrophy, and denervation.The wealth of biochemical, morphological, and clinical data that has accumulated since the discovery of MAD deficiency during the past decade provides nosological significance of MAD deficiency as a real entity.