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

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dc.contributor.author Piirilä, Päivi
dc.contributor.author Similä, Minna E.
dc.contributor.author Palmio, Johanna
dc.contributor.author Wuorimaa, Tomi
dc.contributor.author Ylikallio, Emil
dc.contributor.author Sandell, Satu
dc.contributor.author Haapalahti , Petri
dc.contributor.author Uotila, Lasse
dc.contributor.author Tyynismaa, Henna
dc.contributor.author Udd, Bjarne
dc.contributor.author Auranen, Mari
dc.date.accessioned 2016-07-04T06:43:03Z
dc.date.available 2016-07-04T06:43:03Z
dc.date.issued 2016-05-30
dc.identifier.citation 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
dc.identifier.other PURE: 65605419
dc.identifier.other PURE UUID: 4e2cb84d-56df-44f8-af3a-4d4be590a5ad
dc.identifier.other WOS: 000376626500001
dc.identifier.other Scopus: 84973514539
dc.identifier.other ORCID: /0000-0002-2493-2422/work/29948414
dc.identifier.other ORCID: /0000-0002-2535-4409/work/44916329
dc.identifier.other ORCID: /0000-0001-5178-0703/work/52695514
dc.identifier.uri http://hdl.handle.net/10138/164627
dc.description.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. en
dc.format.extent 6
dc.language.iso eng
dc.relation.ispartof Frontiers in neurology
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject ammonia
dc.subject McArdle disease
dc.subject lactate
dc.subject muscle phosphofructokinase
dc.subject pentose phosphate pathway
dc.subject spiroergometry
dc.subject Tarui disease
dc.subject muscle metabolism
dc.subject WORK CAPACITY
dc.subject GAS-EXCHANGE
dc.subject VII
dc.subject POPULATION
dc.subject METABOLISM
dc.subject RESPONSES
dc.subject WEAKNESS
dc.subject AMMONIA
dc.subject 3124 Neurology and psychiatry
dc.title Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease en
dc.type Article
dc.contributor.organization Clinicum
dc.contributor.organization Department of Diagnostics and Therapeutics
dc.contributor.organization Research Programs Unit
dc.contributor.organization Research Programme for Molecular Neurology
dc.contributor.organization Henna Tyynismaa / Principal Investigator
dc.contributor.organization Medicum
dc.contributor.organization Department of Medical and Clinical Genetics
dc.contributor.organization Neurologian yksikkö
dc.contributor.organization Department of Neurosciences
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.3389/fneur.2016.00082
dc.relation.issn 1664-2295
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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