Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease
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 co...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2016-05-01
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| Series: | Frontiers in Neurology |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00082/full |
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| author | Päivi Liisa Piirilä Minna eSimilä Johanna ePalmio Tomi eWuorimaa Emil eYlikallio Satu eSandell Satu eSandell Satu eSandell Petri eHaapalahti Lasse eUotila Henna eTyynismaa Henna eTyynismaa Bjarne eUdd Mari eAuranen Mari eAuranen |
| author_facet | Päivi Liisa Piirilä Minna eSimilä Johanna ePalmio Tomi eWuorimaa Emil eYlikallio Satu eSandell Satu eSandell Satu eSandell Petri eHaapalahti Lasse eUotila Henna eTyynismaa Henna eTyynismaa Bjarne eUdd Mari eAuranen Mari eAuranen |
| author_sort | Päivi Liisa Piirilä |
| collection | DOAJ |
| description | 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 3 times the basal level was seen 10-30 minutes 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. |
| first_indexed | 2024-12-11T10:07:48Z |
| format | Article |
| id | doaj.art-a3b97f6b291b4fc4915aafba2d6f27d8 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-11T10:07:48Z |
| publishDate | 2016-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-a3b97f6b291b4fc4915aafba2d6f27d82022-12-22T01:11:53ZengFrontiers Media S.A.Frontiers in Neurology1664-22952016-05-01710.3389/fneur.2016.00082197264Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle diseasePäivi Liisa Piirilä0Minna eSimilä1Johanna ePalmio2Tomi eWuorimaa3Emil eYlikallio4Satu eSandell5Satu eSandell6Satu eSandell7Petri eHaapalahti8Lasse eUotila9Henna eTyynismaa10Henna eTyynismaa11Bjarne eUdd12Mari eAuranen13Mari eAuranen14Helsinki University Central Hospital and Helsinki UniversityHelsinki University Central HospitalTampere University Hospital and University of TampereHelsinki University Central Hospital and Helsinki UniversityMolecular Neurology, biomedicum, Helsinki, University of HelsinkiTampere University Hospital and University of TampereSeinäjoki Central HospitalTampere Universilty Hospital and Tampere UniversityHelsinki University Central Hospital and Helsinki UniversityHUSLAB, Helsinki University HospitalMolecular Neurology, biomedicum, Helsinki, University of HelsinkiHaartman Institute and University of HelsinkiTampere University Hospital and University of TampereMolecular Neurology, biomedicum, Helsinki, University of HelsinkiUniversity of Helsinki and Helsinki University HospitalIntroduction. 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 3 times the basal level was seen 10-30 minutes 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.http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00082/fullAmmoniaGlycogen Storage DiseasePentose Phosphate PathwayLactatemuscle metabolismMcArdle disease |
| spellingShingle | Päivi Liisa Piirilä Minna eSimilä Johanna ePalmio Tomi eWuorimaa Emil eYlikallio Satu eSandell Satu eSandell Satu eSandell Petri eHaapalahti Lasse eUotila Henna eTyynismaa Henna eTyynismaa Bjarne eUdd Mari eAuranen Mari eAuranen Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease Frontiers in Neurology Ammonia Glycogen Storage Disease Pentose Phosphate Pathway Lactate muscle metabolism McArdle disease |
| title | Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease |
| title_full | Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease |
| title_fullStr | Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease |
| title_full_unstemmed | Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease |
| title_short | Unique exercise lactate profile in muscle phosphofructokinase deficiency (Tarui disease); difference compared with McArdle disease |
| title_sort | unique exercise lactate profile in muscle phosphofructokinase deficiency tarui disease difference compared with mcardle disease |
| topic | Ammonia Glycogen Storage Disease Pentose Phosphate Pathway Lactate muscle metabolism McArdle disease |
| url | http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00082/full |
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