دورية أكاديمية
No effect of triheptanoin in patients with phosphofructokinase deficiency
| العنوان: | No effect of triheptanoin in patients with phosphofructokinase deficiency |
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| المؤلفون: | Raaschou-Pedersen, Daniel Emil Tadeusz, Madsen, Karen Lindhardt, Løkken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros C.M., Laforêt, Pascal, Lund, Allan Meldgaard Y., van Hall, Gerrit, Vissing, John, Ørngreen, Mette Cathrine |
| المساهمون: | Copenhagen University Hospital, MRC London Institute of Medical Sciences (LMC), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Raymond Poincaré AP-HP, Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), University of Copenhagen = Københavns Universitet (UCPH), Ultragenyx Pharmaceutical, Fonden til Lægevidenskabens Fremme: 17-L-0537, Novo Nordisk Fonden, NNF: NNF170C0027164, This was an investigator-initiated clinical trial. Designed, conducted, and reported independently from Ultragenyx Pharmaceutical Inc. This work was supported by the Novo Nordisk Foundation NNF170C0027164, and the Fonden til Lægevidenskabens Fremme 17- l -0537 . |
| المصدر: | ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.science/hal-03673645Test ; Neuromuscular Disorders, 2022, 32 (4), pp.295-304. ⟨10.1016/j.nmd.2022.01.012⟩. |
| بيانات النشر: | HAL CCSD Elsevier |
| سنة النشر: | 2022 |
| المجموعة: | Université de Versailles Saint-Quentin-en-Yvelines: HAL-UVSQ |
| مصطلحات موضوعية: | fat and carbohydrate metabolism, Glycogen storage disease, Metabolic Myopathies, Phosphofructokinase deficiency, Triheptanoin, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology |
| الوصف: | International audience ; Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there is no specific treatment for PFKD. We hypothesized that 2 weeks treatment with triheptanoin could improve oxidative metabolism during exercise by bypassing the blocked pyruvate generation in PFKD. The study was a randomized, double-blind, placebo-controlled crossover study. Three genetically verified patients completed two treatment periods of 14 days each with triheptanoin (0.3–1 g × kg−1 × day−1) or placebo liquid. Primary outcomes were heart rate, fatty acid and total oxidation measured via stable isotope and indirect calorimetry methodology during submaximal exercise. Triheptanoin did not improve the primary outcome heart rate during submaximal exercise compared to placebo. Palmitate oxidation was increased during submaximal exercise in one patient but did not increase in the two other patients during triheptanoin treatment. Palmitate production and palmitate utilization increased during exercise and increased to a greater extent with triheptanoin treatment in all three patients. This study suggests that triheptanoin treatment has no effect on heart rate or exercise performance despite increased palmitate production and utilization in patients with PFKD. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/35241345; hal-03673645; https://hal.science/hal-03673645Test; https://hal.science/hal-03673645/documentTest; https://hal.science/hal-03673645/file/PIIS0960896622000293.pdfTest; PUBMED: 35241345 |
| DOI: | 10.1016/j.nmd.2022.01.012 |
| الإتاحة: | https://doi.org/10.1016/j.nmd.2022.01.012Test https://hal.science/hal-03673645Test https://hal.science/hal-03673645/documentTest https://hal.science/hal-03673645/file/PIIS0960896622000293.pdfTest |
| حقوق: | http://creativecommons.org/licenses/byTest/ ; info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.D40CE8DA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.nmd.2022.01.012 |
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