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Related Experiment Video

Updated: Apr 26, 2026

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

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

Published on: December 20, 2017

Fabry's disease.

Rima El-Abassi¹, Divya Singhal¹, John D England¹

¹Department of Neurology, Louisiana State University Health Sciences Center, School of Medicine, 1542 Tulane Avenue, New Orleans, LA 70112, United States.

Journal of the Neurological Sciences

|August 10, 2014

Summary

This summary is machine-generated.

Fabry disease, a genetic disorder causing organ damage, is effectively managed with early enzyme replacement therapy. This approach improves pain, heart function, and kidney stabilization, enhancing patient quality of life.

Keywords:

Enzyme replacement therapy Fabry's disease Hereditary neuropathy Lysosomal storage disease Painful neuropathy Small fiber neuropathy

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Area of Science:

Genetics
Metabolic Disorders
Rare Diseases

Background:

Fabry disease is an X-linked lysosomal storage disorder due to GLA gene mutations.
Deficiency in alpha-galactosidase A leads to glycosphingolipid accumulation, primarily globotriaosylceramide.
This accumulation progressively impairs renal and cardiac functions, causing pain, GI issues, and cerebrovascular events.

Purpose of the Study:

To provide a comprehensive review of Fabry disease.
To cover epidemiology, pathophysiology, clinical manifestations, diagnosis, and management.
To highlight the impact of enzyme replacement therapy (ERT) on disease burden and quality of life.

Main Methods:

Systematic review of existing literature on Fabry disease.
Analysis of clinical presentations across various organ systems.
Evaluation of diagnostic criteria and therapeutic strategies, including ERT.

Main Results:

Disease presentation varies, with females potentially experiencing severe symptoms or remaining asymptomatic.
ERT initiated early reduces organ damage, improves neuropathic pain, cardiac mass, renal function, GI symptoms, and hearing.
Awareness of signs and symptoms is crucial for timely diagnosis and intervention.

Conclusions:

Fabry disease requires a multi-system approach to management.
Early diagnosis and treatment, particularly ERT, are critical for mitigating disease progression and improving patient outcomes.
This review serves as a guideline for healthcare professionals in diagnosing and managing Fabry disease.