Tarui disease (GSD VII)
Enzyme or protein defect
Phosphofructokinase-1
Accumulates or becomes deficient
Muscle glycogen
Key features
Exercise intolerance with haemolysis; no second wind
Management
Supportive
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
Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.
Patel U, Gunes E, Chawla A, Ashman K, Taub A, Arakelyan T, Madani A, Patel K, Bui Q, Adler E. · 2026-07-10
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
Glycogen storage disease type VII (Tarui disease): a case report presenting a <i>PFKM</i> variant previously described only in canine models.
Griffo M, Molitierno N, Napoli L, Ripolone M, Zanotti S, Fortunato F, Tumminello G, Moggio M, Locatelli M, Co… · 2026-09-01
open access unreviewed -
5
Metabolic Myopathies in the Era of Next-Generation Sequencing.
Urtizberea JA, Severa G, Malfatti E. · 2023-04-22
cited 18× open access unreviewed -
6
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 -
7
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
Danti FR, Invernizzi F, Moroni I, Garavaglia B, Nardocci N, Zorzi G. · 2021-06-01
cited 5× open access unreviewed -
8
Exercise efficiency impairment in metabolic myopathies.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F. · 2020-05-29
cited 7× open access unreviewed -
9
Non-traumatic and non-drug-induced rhabdomyolysis.
Kolovou G, Cokkinos P, Bilianou H, Kolovou V, Katsiki N, Mavrogeni S. · 2019-12-02
cited 6× open access unreviewed -
10
Glycogen metabolism in humans.
Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E. · 2016-02-27
cited 349× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.