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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

Fabry disease.

Raphael Schiffmann1

  • 1Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA. Raphael.Schiffmann@Baylorhealth.edu

Pharmacology & Therapeutics
|March 26, 2009
PubMed
Summary
This summary is machine-generated.

Fabry disease, a genetic disorder affecting glycosphingolipids due to alpha-galactosidase A deficiency, is under-diagnosed despite causing severe systemic issues. Early diagnosis and management are crucial for patients with this rare but serious condition.

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Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Vasculopathy research

Background:

  • Fabry disease is an X-linked glycosphingolipidosis caused by alpha-galactosidase A deficiency.
  • It leads to systemic vasculopathy and dysfunction in multiple cell types.
  • Complications include neuropathy, stroke, cardiac issues, and renal disease, often mimicking common disorders.

Purpose of the Study:

  • To review the current understanding of Fabry disease.
  • To highlight the under-diagnosis of Fabry disease due to non-specific symptoms.
  • To discuss the pathophysiology, diagnosis, and management of Fabry disease.

Main Methods:

  • Literature review of Fabry disease research.
  • Analysis of genetic studies on GLA gene mutations.
  • Synthesis of information on clinical manifestations and therapeutic approaches.

Main Results:

  • Fabry disease is more common than previously thought, with a higher incidence of GLA gene mutations.
  • The exact mechanisms of alpha-D-galactosyl moiety accumulation causing multi-organ damage are still under investigation.
  • Standard therapies can slow disease progression and manage organ failure.

Conclusions:

  • Fabry disease is likely under-diagnosed and requires increased clinical awareness.
  • Further research is needed to fully elucidate disease mechanisms and optimize specific therapies.
  • Multidisciplinary management, including standard treatments, is essential for improving patient outcomes.