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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
RECURRENCE OF POMPE DISEASE IN FIRST COUSINS
Insights
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.
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.
Abstract:
We report on the cases of two first-degree non-consanguineous cousins with infantile-onset Pompe disease, a rare autosomal recessive disease. The first patient developed cardiorespiratory failure at age 1 year. When she was 4 her male cousin developed hypotonia during his first month of life. Both infants had cardiac hypertrophy at diagnosis and shared the c.1927G>A missense mutation. Since a first degree cousin of an affected patient has 50 times the risk of developing the disease compared with unrelated infants and since cardiac hypertrophy is constant in affected infants, the combination of cardiac symptoms with a history of Pompe disease in a first degree cousin leads to a very high probability of having the condition. Clinically oriented screening based on simple diagnostic procedures such as echocardiogram and anamnesis could accelerate the initiation of enzyme replacement therapy of the deficient acid α-glucosidase which is critical to restoring cardiac function in affected infants.
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