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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Fabry Disease: A Disorder of Childhood Onset

Raphael Schiffmann1, Markus Ries2

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

Pediatric Neurology
|August 25, 2016
PubMed

Insights

Fabry disease, a genetic disorder, increases risks for vasculopathy and organ damage. Early diagnosis and treatment are crucial, but overdiagnosis must be avoided.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • Fabry disease is an X-linked disorder of glycosphingolipids.
  • It elevates the risk of systemic vasculopathy, ischemic stroke, neuropathy, cardiac dysfunction, and kidney disease.
  • Caused by GLA gene variants, its incidence may be underestimated.

Purpose of the Study:

  • To review the clinical manifestations and management of Fabry disease.
  • To highlight the challenges in diagnosis, including under- and overdiagnosis.
  • To discuss current and emerging therapeutic strategies.

Main Methods:

  • Extensive PubMed search on Fabry disease.
  • Analysis based on cumulative clinical experience.

Main Results:

  • Complications are often nonspecific and mimic common disorders.
  • Some GLA gene variants are benign, necessitating caution against overdiagnosis and unjustified enzyme replacement therapy.
  • Current specific therapies show modest clinical effects, with novel agents under development.

Conclusions:

  • Fabry disease is a treatable genetic risk factor for various organ complications.
  • The condition may be frequently overlooked or occasionally overdiagnosed.
  • Standard therapies are essential for managing organ damage and slowing disease progression.
Abstract

Keywords:
X-linkedangiokeratomagenetic diseaseheart diseasesphingolipidsstroke

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