杂合性酸性麦芽糖酶缺乏症患者肌肉中的酸性麦芽糖酶水平以及非虚弱型和神经肌肉疾病对照者肌肉中的酸性麦芽糖酶水平。
Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls.
作者信息
Engel A G, Gomez M R
出版信息
J Neurol Neurosurg Psychiatry. 1970 Dec;33(6):801-4. doi: 10.1136/jnnp.33.6.801.
Abstract
Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM deficiency. A relatively low muscle AM activity in myxoedema myopathy is confirmed. In human muscle, the K(m) of the enzyme for maltose hydrolysis is 7·2 to 9 × 10(-3)M. A modification of the enzyme assay based on this fact is recommended.
摘要
酸性麦芽糖酶（AM）缺乏症携带者可通过肌肉酶检测来发现。该检测表明，与婴儿期和儿童期病例一样，该疾病的成人病例也是通过常染色体隐性遗传传播的。通过麦芽糖水解检测发现，在一些神经肌肉疾病中，肌肉AM活性可能低至杂合性AM缺乏症患者的水平。黏液性水肿性肌病中肌肉AM活性相对较低得到了证实。在人体肌肉中，该酶水解麦芽糖的米氏常数（K(m)）为7·2至9×10(-3)M。基于这一事实，推荐对酶检测方法进行改进。
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