Glycogen storage disease, type V

disorder

SNOMED 55912009CUI C0017924

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Glycogen Storage Disease Type V" from the MEDLINE/PubMed database.

Sort:

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

[object Object], [object Object], [object Object] · Cochrane Database Syst Rev · 2014

PMID: 25391139Meta-AnalysisFull text (PMC)

Physical training for McArdle disease.

[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2011

PMID: 22161416Meta-AnalysisFull text (PMC)

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

[object Object], [object Object], [object Object] · Cochrane Database Syst Rev · 2010

PMID: 21154353Meta-Analysis

Creatine treatment in muscle disorders: a meta-analysis of randomised controlled trials.

[object Object], [object Object], [object Object] · J Neurol Neurosurg Psychiatry · 2008

PMID: 18344391Meta-Analysis

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V).

[object Object], [object Object], [object Object] · Cochrane Database Syst Rev · 2008

PMID: 18425888Meta-Analysis

Pharmacological and nutritional treatment trials in McArdle disease.

[object Object], [object Object] · Acta Myol · 2007

PMID: 17915572Meta-AnalysisFull text (PMC)

Pharmacological and nutritional treatment for McArdle's disease (Glycogen Storage Disease type V).

[object Object], [object Object] · Cochrane Database Syst Rev · 2004

PMID: 15266486Meta-Analysis

Low-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.

[object Object], [object Object], [object Object] et al. · J Neurol · 2025

PMID: 41094169RCTFull text (PMC)

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease.

[object Object], [object Object], [object Object] et al. · J Sport Health Sci · 2024

PMID: 38030066RCTFull text (PMC)

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

[object Object], [object Object], [object Object] et al. · Clin Nutr · 2024

PMID: 38320460RCT

Search all PubMed articles for Glycogen storage disease, type V

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Failure to elevate ammonia on ischemic exercise

Always present (100%)HP:6000320

Reduced muscle glycogen phosphorylase activity

Always present (100%)HP:6000358

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Glycogen accumulation in muscle fibre lysosomes

Very frequent (80-99%)HP:0030231

Highly elevated serum CPK

Very frequent (80-99%)HP:0030234

Increased muscle glycogen content

Very frequent (80-99%)HP:0009051

Poor exercise tolerance

Very frequent (80-99%)HP:0003546

Breakdown of skeletal muscle

Frequent (30-79%)HP:0003201

Dark urine

Frequent (30-79%)HP:0040319

Exercise-induced myoglobinuria in adults

Frequent (30-79%)HP:0008305

Hyperuricaemia

Frequent (30-79%)HP:0002149

Muscle cramps with exertion

Frequent (30-79%)HP:0003710

Myoglobinuria

Frequent (30-79%)HP:0002913

Recurrent myoglobinuria

Frequent (30-79%)HP:0003652

Acute kidney failure

Occasional (5-29%)HP:0001919

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Exertional dyspnea

Occasional (5-29%)HP:0002875

Muscle atrophy, neurogenic

Occasional (5-29%)HP:0003202

Muscle pain with exercise

Occasional (5-29%)HP:0003738

Muscle stiffness with exercise

Occasional (5-29%)HP:0008967

Muscle weakness

Occasional (5-29%)HP:0001324

Muscle weakness, progressive, proximal

Occasional (5-29%)HP:0009073

Postexertional malaise

Occasional (5-29%)HP:0030973

Racing heart

Occasional (5-29%)HP:0001649

Tiredness

Occasional (5-29%)HP:0012378

Chewing difficulties

Very rare (1-4%)HP:0005216

CKD

Very rare (1-4%)HP:0012622

Deglutition disorder

Very rare (1-4%)HP:0002015

Failure to elevate lactate upon ischemic exercise test

HP:6000526

Rhabdomyolysis with exercise

HP:0009045

Related Conditions

Glycogen storage disease, muscular form(parent)

Quick Facts

SNOMED CT: 55912009
UMLS CUI: C0017924
Fully Specified Name: Glycogen storage disease, type V (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.