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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Is it Fabry disease?

Raphael Schiffmann1, Maria Fuller2, Lorne A Clarke3

  • 1Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 20, 2016
PubMed
Summary
This summary is machine-generated.

Determining Fabry disease pathogenicity requires assessing GLA variants alongside elevated globotriaosylceramide levels. This ensures costly therapies are reserved for patients with confirmed disease manifestations.

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Area of Science:

  • Genetics
  • Biochemistry
  • Rare Diseases

Background:

  • Fabry disease results from GLA gene mutations, leading to reduced alpha-galactosidase A activity.
  • Some GLA variants show higher residual enzyme activity, complicating pathogenicity assessment.
  • Distinguishing pathogenic GLA variants is crucial for appropriate patient management.

Purpose of the Study:

  • To review GLA variants and establish criteria for determining Fabry disease pathogenicity.
  • To recommend diagnostic methods for accurate variant classification.

Main Methods:

  • Review of existing literature on GLA variants and Fabry disease.
  • Emphasis on mass spectrometry for globotriaosylceramide quantification in tissues.
  • Correlation of enzyme activity, genetic variants, and clinical manifestations.

Main Results:

  • Not all GLA variants lead to clinical Fabry disease.
  • Elevated globotriaosylceramide in relevant organs is a key indicator of pathogenicity.
  • Mass spectrometry provides essential data for diagnostic confirmation.

Conclusions:

  • Pathogenicity of GLA variants should be confirmed by elevated globotriaosylceramide levels.
  • This approach ensures targeted and appropriate use of expensive Fabry disease therapies.
  • Accurate diagnosis based on biochemical evidence is critical for patient care.