肌腺苷酸脱氨酶缺乏症：通过前臂缺血性运动试验进行诊断。

Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing.

作者信息

Valen P A, Nakayama D A, Veum J A, Wortmann R L

出版信息

Adv Exp Med Biol. 1986;195 Pt B:525-8. doi: 10.1007/978-1-4684-1248-2_81.

DOI:10.1007/978-1-4684-1248-2_81

Abstract

These results indicate that measuring venous ammonia concentrations after forearm ischemic exercise is an effective means of screening for MADA deficiency but that submaximal exercise performance, whether due to weakness, pain or poor effort, can provide false positive results. Measurements of purine compounds released after exercise may increase the specificity of forearm ischemic exercise testing for MADA deficiency. The low level of purines released after exercise in MADA-deficient subjects supports the hypothesis that disordered purine metabolisms occurs when MADA activity is absent.

摘要

这些结果表明，测量前臂缺血运动后的静脉血氨浓度是筛查MADA缺乏症的有效方法，但次最大运动表现，无论是由于虚弱、疼痛还是努力程度不足，都可能产生假阳性结果。测量运动后释放的嘌呤化合物可能会提高前臂缺血运动试验对MADA缺乏症诊断的特异性。MADA缺乏症患者运动后释放的嘌呤水平较低，这支持了在缺乏MADA活性时会发生嘌呤代谢紊乱的假说。

相似文献

1

Myoadenylate deaminase deficiency: diagnosis by forearm ischemic exercise testing.

Adv Exp Med Biol. 1986;195 Pt B:525-8. doi: 10.1007/978-1-4684-1248-2_81.

2

Myoadenylate deaminase deficiency and forearm ischemic exercise testing.

Arthritis Rheum. 1987 Jun;30(6):661-8. doi: 10.1002/art.1780300609.

3

Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose.

Klin Wochenschr. 1986 Dec 15;64(24):1281-90. doi: 10.1007/BF01785710.

4

Myoadenylate deaminase deficiency: an enzyme defect in search of a disease.

Adv Exp Med Biol. 1984;165 Pt A:85-9. doi: 10.1007/978-1-4684-4553-4_15.

5

Skeletal muscle adenosine, inosine and hypoxanthine release following ischaemic forearm exercise in myoadenylate deaminase deficiency and McArdle's disease.

Adv Exp Med Biol. 1986;195 Pt B:517-23. doi: 10.1007/978-1-4684-1248-2_80.

6

Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine.

Clin Sci (Lond). 1986 Apr;70(4):399-401. doi: 10.1042/cs0700399.

7

Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.

J Clin Invest. 1984 Mar;73(3):720-30. doi: 10.1172/JCI111265.

8

McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency.

Neurology. 1987 Jun;37(6):1039-42. doi: 10.1212/wnl.37.6.1039.

9

Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency.

Neurology. 1983 Jun;33(6):784-6. doi: 10.1212/wnl.33.6.784.

10

Myoadenylate deaminase deficiency.

Klin Wochenschr. 1986 Apr 1;64(7):342-7. doi: 10.1007/BF01711958.

引用本文的文献

1

Myoadenylate deaminase deficiency with severe rhabdomyolysis.

Eur J Pediatr. 1993 Jun;152(6):513-5. doi: 10.1007/BF01955062.

2

Myoadenylate deaminase deficiency.

Klin Wochenschr. 1987 Nov 2;65(21):1023-33. doi: 10.1007/BF01726321.

3

Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose.

Klin Wochenschr. 1986 Dec 15;64(24):1281-90. doi: 10.1007/BF01785710.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。