Enzyme or protein defect
Myophosphorylase
Accumulates or becomes deficient
Muscle glycogen
Key features
Exercise intolerance, cramps, myoglobinuria, second-wind phenomenon; normal blood glucose
Management
Moderate exercise; sucrose pre-exercise
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Utility of Exogenous Ketones and Modified Atkins Diet in a Child With GSD VII (Tarui Disease).
Batten K, Van Doorn N, Moon JH, Simar D, Broderick C, Bhattacharya K. · 2026-09-23
open access unreviewed -
2
Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026
· 2026-06-14
open access unreviewed -
3
Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.
Shakerdi LA. · 2026-03-09
cited 1× open access unreviewed -
4
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Koch RL, Fares AH, Cocanougher BT, Lim J, Haijer-Schreuder AB, Derks TGJ, Grünert SC, Sharma R, Jones KA, Kis… · 2025-11-10
cited 1× open access unreviewed -
5
Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.
Deenen JC, Verbeek AL, Verschuuren JJ, van Engelen BG, Voermans NC. · 2025-03-04
cited 22× open access unreviewed -
6
Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojd… · 2025-08-18
cited 2× open access unreviewed -
7
Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature.
Elghobashy M, Pohl U, Bateman J. · 2025-01-03
open access unreviewed -
8
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.
Ullman JC, Mellem KT, Xi Y, Ramanan V, Merritt H, Choy R, Gujral T, Young LEA, Blake K, Tep S, Homburger JR, … · 2024-01-17
cited 34× unreviewed -
9
Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA, Severa G, Malfatti E. · 2023-04-22
cited 18× open access unreviewed -
10
Pathophysiology and Management of Fatigue in Neuromuscular Diseases.
Torri F, Lopriore P, Montano V, Siciliano G, Mancuso M, Ricci G. · 2023-03-05
cited 16× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.