Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN du P31)

Drouet, A.; Zagnoli, Fabien; Fassier, Thomas; Rannou, Fabrice; Baverel, Françoise; Piraud, Monique; Bahuau, M.; Petit, François; Streichenberger, N.; Marcorelles, P.; Durand, D. Vital

doi:10.1016/j.neurol.2013.02.006

Cited by 3 publications

(3 citation statements)

References 26 publications

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“…Glycogenoses subgroup was composed of 8 patients. One patient had Tarui disease (GSD VII), showed severe reduction of phosphofructokinase activity in muscle biopsy (0.6 U/g, normal range 19-41) and harbored a compound heterozygous mutation, IVS15 + 1 G > T and c.76 G > C, in the PFKM gene (see Drouet et al,35 for details). Seven patients had McArdle disease (GSD V) with the absence of myophosphorylase activity in muscle biopsy (n = 6 patients) and…”

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confidence: 99%

Exercise efficiency impairment in metabolic myopathies

Noury¹,

Zagnoli²,

Petit

et al. 2020

Sci Rep

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Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance. The primary aim of this research was to evaluate the oxygen cost (∆V'o 2 /∆Work-Rate) during incremental exercise in patients with metabolic myopathies as compared with patients with non-metabolic myalgia and healthy subjects. The study groups consisted of eight patients with muscle glycogenoses (one Tarui and seven McArdle diseases), seven patients with a complete and twenty-two patients with a partial myoadenylate deaminase (MAD) deficiency in muscle biopsy, five patients with a respiratory chain deficiency, seventy-three patients with exercise intolerance and normal muscle biopsy (non-metabolic myalgia), and twenty-eight healthy controls. The subjects underwent a cardiopulmonary exercise test (CPX Medgraphics) performed on a bicycle ergometer. Pulmonary V'O 2 was measured breath-by-breath throughout the incremental test. The ∆V'o 2 /∆Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted, mean ± SD; p < 0.04, one-way ANOVA) was seen in patients with glycogenoses (62.8 ± 10.2%) and respiratory chain defects (70.8 ± 23.3%) compared to patients with non-metabolic myalgia (100.0 ± 15.9%) and control subjects (106.4 ± 23.5%). ∆V'o 2 /∆Work-Rate slope (mLO 2 .min −1 .W −1) was increased in patients with MAD absent (12.6 ± 1.5), MAD decreased (11.3 ± 1.1), glycogenoses (14.0 ± 2.5), respiratory chain defects (13.1 ± 1.2), and patients with non-metabolic myalgia (11.3 ± 1.3) compared with control subjects (10.2 ± 0.7; p < 0.001, one-way ANOVA). In conclusion, patients with metabolic myopathies display an increased oxygen cost during exercise and therefore can perform less work for a given VO 2 consumption during daily life-submaximal exercises.

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confidence: 99%

Exercise efficiency impairment in metabolic myopathies

Noury¹,

Zagnoli²,

Petit

et al. 2020

Sci Rep

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“…Although fewer studies have been published on the forearm exercise test for the diagnosis of GSD VII, similar flat lactate responses have been observed [56,57], and therefore the aforementioned recommendations apply. This test only indicates a block in the glycogen degradation pathway, and it is not specific for any individual muscle GSD.…”

Section: Othermentioning

confidence: 90%

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

Lucía¹,

Martinuzzi

Nogales‐Gadea

et al. 2021

Neuromuscular Disorders

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“…In this subgroup (glycogenoses), the diagnosis for McArdle (n = 2) and Tarui (n = 1) diseases was confirmed by the absence of myophosphorylase and phosphofructokinase activity, respectively, in biochemical analysis. Features of the subject presenting Tarui disease have been presented elsewhere [ 41 ]. Fig 2 displays the results of histochemical staining in muscle sections using the p -NBT reaction.…”

Section: Resultsmentioning

confidence: 99%

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

Rannou¹,

Uguen

Scotet

et al. 2015

PLoS ONE

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AimOur aim was to evaluate the accuracy of aerobic exercise testing to diagnose metabolic myopathies.MethodsFrom December 2008 to September 2012, all the consecutive patients that underwent both metabolic exercise testing and a muscle biopsy were prospectively enrolled. Subjects performed an incremental and maximal exercise testing on a cycle ergometer. Lactate, pyruvate, and ammonia concentrations were determined from venous blood samples drawn at rest, during exercise (50% predicted maximal power, peak exercise), and recovery (2, 5, 10, and 15 min). Biopsies from vastus lateralis or deltoid muscles were analysed using standard techniques (reference test). Myoadenylate deaminase (MAD) activity was determined using p-nitro blue tetrazolium staining in muscle cryostat sections. Glycogen storage was assessed using periodic acid-Schiff staining. The diagnostic accuracy of plasma metabolite levels to identify absent and decreased MAD activity was assessed using Receiver Operating Characteristic (ROC) curve analysis.ResultsThe study involved 51 patients. Omitting patients with glycogenoses (n = 3), MAD staining was absent in 5, decreased in 6, and normal in 37 subjects. Lactate/pyruvate at the 10th minute of recovery provided the greatest area under the ROC curves (AUC, 0.893 ± 0.067) to differentiate Abnormal from Normal MAD activity. The lactate/rest ratio at the 10th minute of recovery from exercise displayed the best AUC (1.0) for discriminating between Decreased and Absent MAD activities. The resulting decision tree achieved a diagnostic accuracy of 86.3%.ConclusionThe present algorithm provides a non-invasive test to accurately predict absent and decreased MAD activity, facilitating the selection of patients for muscle biopsy and target appropriate histochemical analysis.

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Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN du P31)

Cited by 3 publications

References 26 publications

Exercise efficiency impairment in metabolic myopathies

Exercise efficiency impairment in metabolic myopathies

Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study

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