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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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Published on: December 20, 2017

Fabry's disease.

Yuri A Zarate1, Robert J Hopkin

  • 1Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Lancet (London, England)
|October 23, 2008
PubMed
Summary
This summary is machine-generated.

Fabry disease, a genetic disorder, results from GLA gene mutations causing alpha-galactosidase A deficiency. Early enzyme replacement therapy improves organ function and symptoms, but additional treatments may be needed for organ dysfunction.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Lysosomal Storage Diseases

Background:

  • Fabry disease is an X-linked lysosomal storage disorder stemming from GLA gene mutations.
  • This deficiency in alpha-galactosidase A causes glycosphingolipid accumulation, leading to significant morbidity and mortality.
  • The review encompasses epidemiology, pathophysiology, clinical manifestations, diagnosis, management, prevention, and quality of life impacts.

Purpose of the Study:

  • To provide a comprehensive overview of Fabry disease.
  • To highlight the significance of early enzyme replacement therapy (ERT).
  • To discuss the need for individualized treatment strategies alongside ERT.

Main Methods:

  • Literature review of Fabry disease aspects.
  • Analysis of current treatment strategies, including ERT.
  • Evaluation of clinical outcomes and quality of life data.

Main Results:

  • ERT has shown promise in improving cardiac mass, stabilizing kidney function, and alleviating pain, sweating, GI, hearing, and pulmonary symptoms.
  • Early ERT initiation is crucial for better outcomes in major affected organs.
  • Many patients require additional symptom-specific treatments, particularly those with existing organ dysfunction.

Conclusions:

  • Enzyme replacement therapy is a cornerstone in managing Fabry disease, especially when initiated early.
  • A multimodal treatment approach, combining ERT with symptom-specific therapies, is often necessary for optimal patient care.
  • Further research is needed to establish long-term treatment efficacy and outcomes.