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Updated: Apr 4, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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RECURRENCE OF POMPE DISEASE IN FIRST COUSINS.

D Lacombe, J B Thambo, M Fayon

Genetic Counseling (Geneva, Switzerland)

|September 10, 2015

Summary

This summary is machine-generated.

Infantile Pompe disease, a genetic disorder, can be suspected in infants with cardiac issues and a family history. Early screening, including echocardiograms, aids in timely diagnosis and treatment.

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Area of Science:

Genetics
Pediatrics
Metabolic Disorders

Background:

Pompe disease is a rare, autosomal recessive metabolic disorder.
It results from deficiency of the enzyme acid alpha-glucosidase.
Infantile-onset Pompe disease presents with severe symptoms, including cardiorespiratory failure and hypotonia.

Observation:

Two first-degree cousins presented with infantile-onset Pompe disease.
Both patients exhibited cardiac hypertrophy at diagnosis.
A shared c.1927G>A missense mutation was identified in both affected infants.

Findings:

First-degree cousins of Pompe disease patients have a significantly elevated risk (50x) of developing the condition.
Cardiac hypertrophy is a consistent finding in infants with Pompe disease.
The combination of cardiac symptoms and family history strongly suggests Pompe disease.

Implications:

Clinically oriented screening using echocardiograms and medical history can accelerate diagnosis.
Early initiation of enzyme replacement therapy is crucial for improving cardiac function.
Prompt treatment can significantly impact outcomes for infants with Pompe disease.