Exercise testing and prescription in patients with inborn errors of muscle energy metabolism

K Batten, K Bhattacharya, D Simar… - Journal of Inherited …, 2023 - Wiley Online Library
Skeletal muscle is a dynamic organ requiring tight regulation of energy metabolism in order
to provide bursts of energy for effective function. Several inborn errors of muscle energy …

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

C Rodriguez‐Lopez, A Santalla… - The Journal of …, 2023 - Wiley Online Library
Carbohydrate availability affects fat metabolism during exercise; however, the effects of
complete muscle glycogen unavailability on maximal fat oxidation (MFO) rate remain …

[HTML][HTML] Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)

K Mishra, O Kakhlon - Biomolecules, 2024 - mdpi.com
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders
characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in …

Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease

PL Valenzuela, A Santalla, LB Alejo, A Bustos… - Clinical Nutrition, 2024 - Elsevier
Background & aims Ketone supplementation is gaining popularity. Yet, its effects on
exercise performance when muscle glycogen cannot be used remain to be determined …

Aerobic capacity and muscle proteome: Insights from a mouse model

A Plaza‐Florido, A Santos‐Lozano… - Experimental …, 2024 - Wiley Online Library
We explored the association between aerobic capacity (AC) and the skeletal muscle
proteome of McArdle (n= 10) and wild‐type (n= 8) mice, as models of intrinsically 'low'and …

[HTML][HTML] Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients

SL Reason, N Voermans, A Lucia, J Vissing… - Neuromuscular …, 2023 - Elsevier
McArdle disease (glycogen storage disease type V; GSDV) is a rare genetic disease caused
by the inability to break down glycogen in skeletal muscle due to a deficiency in …

[HTML][HTML] Breaking Barriers: Strength Training Feasibility in McArdle Syndrome-A systematic review

DN Ribeiro, ASR da Silva, AP Pinto - Advanced Exercise and Health …, 2024 - Elsevier
The practice of physical fitness training plays a crucial role in the management of McArdle
disease (MD), a metabolic myopathy characterized by myophosphorylase deficiency, which …

Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature

M Elghobashy, U Pohl… - Case Reports in …, 2025 - Wiley Online Library
McArdle disease or glycogen storage disease Type V is a genetic condition caused by
PYGM gene mutations leading to exercise intolerance and fatigability. The condition most …

[HTML][HTML] Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

M Villarreal-Salazar, A Santalla, A Real-Martínez… - Molecular …, 2022 - Elsevier
Background McArdle disease is caused by myophosphorylase deficiency and results in
complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle …

An experiment of nature links muscle glycogen unavailability with very high fat oxidation rates despite low aerobic fitness.

J Nielsen - Journal of Physiology, 2023 - search.ebscohost.com
Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle
disease. Keywords: exercise; fat metabolism; glycogen; McArdle disease EN exercise fat …