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Type V glycogen storage disease.

J Williams, G Hosking

Archives of Disease in Childhood

|December 1, 1985

Summary

This summary is machine-generated.

Type V glycogen storage disease (GSD V), typically diagnosed in adults, can manifest in childhood. Children with GSD V may show early signs like reluctance to climb hills, suggesting earlier diagnosis is possible.

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Area of Science:

Biochemistry
Pediatrics
Genetics

Background:

Glycogen storage disease type V (GSD V), also known as McArdle disease, is a metabolic disorder.
It is characterized by a deficiency in muscle glycogen phosphorylase, leading to impaired glycogen breakdown in muscles.
GSD V is traditionally considered a condition with adult onset, presenting with exercise intolerance and muscle pain.

Observation:

This study observed three pediatric patients exhibiting reluctance to climb hills.
This symptom was noted as an early indicator of potential GSD V.
The patients' presentation challenged the typical adult-onset description of the disease.

Findings:

The children described presented with symptoms suggestive of GSD V during childhood.

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Their reluctance to climb hills served as a key early clinical manifestation.

This highlights that GSD V may not exclusively present in adulthood.

Implications:

Early diagnosis of GSD V in childhood is feasible through careful clinical observation.
Recognizing childhood symptoms can lead to timely intervention and management strategies.
This broadens the understanding of GSD V's clinical spectrum and diagnostic window.