Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

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Piirilä , P , Similä , M E , Palmio , J , Wuorimaa , T , Ylikallio , E , Sandell , S , Haapalahti , P , Uotila , L , Tyynismaa , H , Udd , B & Auranen , M 2016 , ' Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease ' , Frontiers in neurology , vol. 7 , 82 . https://doi.org/10.3389/fneur.2016.00082

Title: Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease
Author: Piirilä, Päivi; Similä, Minna E.; Palmio, Johanna; Wuorimaa, Tomi; Ylikallio, Emil; Sandell, Satu; Haapalahti, Petri; Uotila, Lasse; Tyynismaa, Henna; Udd, Bjarne; Auranen, Mari
Contributor: University of Helsinki, Clinicum
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Department of Diagnostics and Therapeutics
University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
Date: 2016-05-30
Language: eng
Number of pages: 6
Belongs to series: Frontiers in neurology
ISSN: 1664-2295
URI: http://hdl.handle.net/10138/164627
Abstract: Introduction: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing could distinguish between these disorders. Methods: Two siblings with Tarui disease, two patients with McArdle disease and eight healthy controls were tested on spiroergometric exercise tests with follow-up of venous lactate and ammonia. Results: A late increase of lactate about three times the basal level was seen 10-30 min after exercise in patients with Tarui disease being higher than in McArdle disease and lower than in the controls. Ammonia was increased in Tarui disease. Discussion: Our results suggest that follow-up of lactate associated with exercise testing can be utilized in diagnostics to distinguish between different GSD diseases.
Subject: ammonia
McArdle disease
lactate
muscle phosphofructokinase
pentose phosphate pathway
spiroergometry
Tarui disease
muscle metabolism
WORK CAPACITY
GAS-EXCHANGE
VII
GLYCOGENOSIS
POPULATION
METABOLISM
RESPONSES
WEAKNESS
AMMONIA
3124 Neurology and psychiatry
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