Biochemical Determinations in a Recently Investigated Case of McArdle’s Disease
作者:
Noemi Luca,
Stanca Bănileanu,
期刊:
European Neurology
(Karger Available online 1974)
卷期:
Volume 11,
issue 1
页码: 58-68
ISSN:0014-3022
年代: 1974
DOI:10.1159/000114306
出版商: S. Karger AG
关键词: McArdle’s disease;Ischaemic exercise;Glycogen storage;Muscle phosphorylase;Genetic abnormality
数据来源: Karger
摘要:
Our study includes assays of the serum activities of ALD, CPK and GOT and GPT transaminase in a patient with McArdle’s disease. Muscle glycolysis has been investigated and the glycogen concentration and phosphorylase activity determined biochemically in the muscle biopsy. Our results point to three major biochemical features which are indicative of McArdle’s disease: in the blood, the failure of venous lactic acid to rise after ischaemic exercise, and in the muscle the increase of glycogen concentration and the lack of phosphorylase activ
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