Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type <scp>IIIa</scp> are phenotype‐specific: An investigator‐initiated, randomized, crossover study

Hoogeveen, Irene J.; Boer, Foekje de; Boonstra, Willemijn F.; Schaaf, Caroline; Steuerwald, Ulrike; Sibeijn-Kuiper, Anita; Vegter, Riemer J K; Hoeven, Johannes H. van der; Heiner‐Fokkema, M. Rebecca; Clarke, Kieran; Cox, Pete J.; Derks, Terry G J; Jeneson, Jeroen A. L.

doi:10.1002/jimd.12302

Cited by 4 publications

(5 citation statements)

References 45 publications

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“…The deficit in V̇O 2 peak was different amongst the group, with participants achieving between 22 and 91% of their predicted value. Hoogeveen et al [ 10 ] also identified a large range in V̇O 2 peak but with values generally higher than the current study (range: 46–105% of predicted). A key factor explaining this variation in the current study appears to be age/disease progression, with those achieving a higher V̇O 2 peak tending to be younger.…”

Section: Discussioncontrasting

confidence: 57%

“…A key factor explaining this variation in the current study appears to be age/disease progression, with those achieving a higher V̇O 2 peak tending to be younger. However, in contrast, Hoogeveen et al [ 10 ] found older participants had the highest V̇O 2 peak relative to predicted. This discrepancy could be attributable to differences in the genetic and environmental characteristics of the two samples.…”

Section: Discussionmentioning

confidence: 87%

“…One such omission in the research literature is the lack of sufficient normative reference data for GSD IIIa to aid interpretation of cardiovascular fitness and muscular strength outcomes. At present, normative data for cardiovascular fitness is limited to 12 individuals [ 8 – 10 ] whilst leg strength has been reported in 18 patients [ 11 ]. The current study adds normative data on skeletal muscle size and quality.…”

Section: Introductionmentioning

confidence: 99%

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Hennis

Murphy

Meijer

et al. 2022

Orphanet J Rare Dis

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Background Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capacity, such as strength and cardiovascular fitness, are limited. Furthermore, the impact of the disease on muscle size and quality is unstudied in weight bearing skeletal muscle, a key predictor of physical function. We aim to produce normative reference values of aerobic capacity and strength in individuals with GSD IIIa, and to investigate the role of muscle size and quality on exercise impairment. Results Peak oxygen uptake (V̇O2peak) was lower in the individuals with GSD IIIa than predicted based on demographic data (17.0 (9.0) ml/kg/min, 53 (24)% of predicted, p = 0.001). Knee extension maximum voluntary contraction (MVC) was also substantially lower than age matched predicted values (MVC: 146 (116) Nm, 57% predicted, p = 0.045), though no difference was found in MVC relative to body mass (1.88 (2.74) Nm/kg, 61% of predicted, p = 0.263). There was a strong association between aerobic capacity and maximal leg strength (r = 0.920; p = 0.003). Substantial inter-individual variation was present, with a high physical capacity group that had normal leg strength (MVC), and relatively high V̇O2peak, and a low physical capacity that display impaired strength and substantially lower V̇O2peak. The higher physical capacity sub-group were younger, had larger Vastus Lateralis (VL) muscles, greater muscle quality, undertook more physical activity (PA), and reported higher health-related quality of life. Conclusions V̇O2peak and knee extension strength are lower in individuals with GSD IIIa than predicted based on their demographic data. Patients with higher physical capacity have superior muscle size and structure characteristics and higher health-related quality of life, than those with lower physical capacity. This study provides normative values of these important markers of physical capacity.

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Section: Discussioncontrasting

confidence: 57%

Section: Discussionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Hennis

Murphy

Meijer

et al. 2022

Orphanet J Rare Dis

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“…Following this logic, it is possible that ketone bodies may offer another therapeutic avenue. Other than the study cited above, 66 a recent trial 70 examined whether the ingestion of ketone‐esters with maltodextrin, compared to maltodextrin alone, would improve cardiorespiratory and metabolic parameters in GSD III patients during exercise. They show a notable effect in those patients with overt myopathy, specifically improvement in the respiratory exchange ratio and the 31 P MR spectra of the quadriceps during exercise at 60% of maximum capacity in the ketone‐ester group compared to the maltodextrin group.…”

Section: Introductionmentioning

confidence: 99%

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Berling

Laforêt

Wahbi

et al. 2021

J of Inher Metab Disea

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Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, notably liver, cardiac and skeletal muscle. In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. In this review article, we first present an overview of the biochemical and clinical aspects of GSDIII. We then focus on the recent findings regarding cardiac and neuromuscular impairment associated with the disease. We review new insights into the pathophysiology and clinical picture of this disorder, including symptomatology, imaging and electrophysiology. Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long‐term therapeutic option for this debilitating disease.

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“…In cases of severe cardiac damage, recommended diet is high in proteins, low in carbohydrates and high in lipids to complete the energy intake [ 62 – 65 ].…”

Section: Diagnosis and Initial Assessmentmentioning

confidence: 99%

French recommendations for the management of glycogen storage disease type III

Wicker¹,

Cano²,

Decostre³

et al. 2023

Eur J Med Res

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The aim of the Protocole National De Diagnostic et de Soins/French National Protocol for Diagnosis and Healthcare (PNDS) is to provide advice for health professionals on the optimum care provision and pathway for patients with glycogen storage disease type III (GSD III).The protocol aims at providing tools that make the diagnosis, defining the severity and different damages of the disease by detailing tests and explorations required for monitoring and diagnosis, better understanding the different aspects of the treatment, defining the modalities and organisation of the monitoring. This is a practical tool, to which health care professionals can refer. PNDS cannot, however, predict all specific cases, comorbidities, therapeutic particularities or hospital care protocols, and does not seek to serve as a substitute for the individual responsibility of the physician in front of his/her patient.

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Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study

Cited by 4 publications

References 45 publications

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

French recommendations for the management of glycogen storage disease type III

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