glycogen storage disease VII
Findings
No curated finding names glycogen storage disease VII yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
Definition from the Mondo Disease Ontology (MONDO:0009295), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 3 reported patients
- Exercise-induced muscle fatigueHPOHP:0009020
- 1 of 1 reported patient
- Exercise-induced muscle stiffnessHPOHP:0008967
- 1 of 1 reported patient
- Exercise-induced myoglobinuriaHPOHP:0008305
- 1 of 1 reported patient
- Increased muscle glycogen contentHPOHP:0009051
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 10
- MyalgiaHPOHP:0003326
- 2 of 3 reported patients
- ReticulocytosisHPOHP:0001923
- 2 of 3 reported patients
- HyperuricemiaHPOHP:0002149
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Elevated circulating aldolase concentrationHPOHP:0012544
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PFKMHGNC:8877
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
13 names
Resolves to: glycogen storage disease VII
- Also called
- glycogen storage disease caused by mutation in PFKMGlycogen Storage Disease Type 7glycogen storage disease type VIIglycogenosis due to muscle phosphofructokinase deficiencyglycogenosis type 7glycogenosis type VIIGSD due to muscle phosphofructokinase deficiencyGSD type 7GSD type VIIGSDVIIPFKM glycogen storage diseasephosphofructokinase deficiencyTarui disease