Normal activities of AMP-deaminase and adenylate kinase in patients with McArdle disease

被引：2

作者：

Joshi, Pushpa Raj ^{[1
]}

Apitz, Thekla ^{[1
]}

Zierz, Stephan ^{[1
]}

机构：

[1] Martin Luther Univ Halle Wittenberg, Dept Neurol, Ernst Grube Str 40, D-06120 Halle, Saale, Germany

来源：

NEUROLOGICAL RESEARCH | 2016年 / 38卷 / 12期

关键词：

McArdle; Enzyme; Ammonia; AMP deaminase; Adenylate kinase; ISCHEMIC EXERCISE TEST; SKELETAL-MUSCLE; OXIDATIVE-METABOLISM; RABBIT RED; DEFICIENCY; ISOENZYMES; VII;

D O I：

10.1080/01616412.2016.1243638

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

During physical activity in McArdle patients, little or no lactate is released in the skeletal muscle. However, excessive ammonia production has frequently been reported in these patients. Production of ammonia is catalysed by AMP deaminase (AMPD) and adenylate kinase (AK). The activities of AMPD and AK along with housekeeping enzyme phosphoglucoisomerase (PGI) were measured in 11 genetically confirmed McArdle patients and compared with 27 healthy controls. The AMPD and AK activities were not significantly different in patients and controls. The activity of PGI was significantly higher in patients than in controls suggesting compensation of the impaired glycogenolysis in McArdle. The ratios of activities of AMPD and AK over PGI were significantly lower in patients than in controls. High ammonia production in McArdle patients is not based on enzyme induction of AMPD and AK but possibly due to kinetic activation of the enzyme AMPD by increased concentration of the substrate AMP.

引用

页码：1052 / 1055

页数：4

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