Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Mcardle's disease. A case report

E Dirik1, F Taşkin, Y Eroğlu

  • 1Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir.

The Turkish Journal of Pediatrics
|July 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The effect of probiotics on prevention of upper respiratory tract infections in the paediatric community - a systematic review.

Beneficial microbes·2020
Same author

Afebrile convulsion: a rare complication of inactivated hepatitis A vaccine in childhood.

Minerva pediatrica·2015
Same author

Hepatic artery resistance in children with obesity and fatty liver.

Indian journal of pediatrics·2010
Same author

Paroxysmal nocturnal haemoglobinuria clones are part of the immune dysregulation in hepatitis-associated aplastic anaemia.

Alimentary pharmacology & therapeutics·2009
Same author

Clinical, pathological and radiological survey of patients with Leigh syndrome.

Minerva pediatrica·2009
Same author

Diffuse myelitis in a 9-month-old infant: case report and review of the literature.

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit·2009
Same journal

Comment on dynamic plasma biomarker trajectories in pediatric sepsis.

The Turkish journal of pediatrics·2026
Same journal

Revisiting maternal perception and objective nutritional status in children with reported poor appetite.

The Turkish journal of pediatrics·2026
Same journal

Effective interleukin-6 inhibition in a pediatric patient with mevalonate kinase deficiency and chronic nonbacterial osteomyelitis-like bone lesions under interleukin-1 blockade.

The Turkish journal of pediatrics·2026
Same journal

When a handle bar accident leads to hernia: report of three cases.

The Turkish journal of pediatrics·2026
Same journal

Effect of mesenchymal stem cell treatment on retinopathy of prematurity in patients with bronchopulmonary dysplasia: experience of a tertiary center.

The Turkish journal of pediatrics·2026
Same journal

Three cases of tufting enteropathy and review of literature.

The Turkish journal of pediatrics·2026
See all related articles

McArdle's disease, a metabolic myopathy, causes muscle cramps due to impaired glycogen use. This study presents a family with proven McArdle's disease and other children showing positive screening tests.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • McArdle's disease is an inherited metabolic myopathy affecting skeletal muscle glycogen metabolism.
  • It results from myophosphorylase deficiency, hindering glycogen utilization and causing exercise intolerance.
  • Symptoms include muscle weakness and cramps, typically emerging in early adulthood.

Observation:

  • This report details a family with a child diagnosed with McArdle's disease via enzyme assay.
  • Two other siblings presented with a positive ischemic exercise test, a key screening tool for muscle energy disorders.
  • The study highlights the clinical presentation within a single family affected by this condition.

Findings:

  • Enzyme assay confirmed McArdle's disease in one child.

Related Experiment Videos

  • Positive ischemic exercise tests in siblings suggest potential carrier status or milder forms of the disorder.
  • This family case illustrates the spectrum of presentation for McArdle's disease.

    • Implications:

    • Early identification of McArdle's disease and related conditions is crucial for management.
    • The ischemic exercise test serves as a valuable non-invasive screening method.
    • Understanding familial patterns aids in genetic counseling and diagnosis of metabolic myopathies.