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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

Pompe's disease.

Ans T van der Ploeg1, Arnold J J Reuser

  • 1Department of Paediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC, Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl

Lancet (London, England)
|October 22, 2008
PubMed
Summary
This summary is machine-generated.

Pompe's disease is a rare genetic disorder causing glycogen buildup in lysosomes. Enzyme replacement therapy has significantly improved treatment options for this progressive metabolic and muscular disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pompe's disease, also known as glycogen-storage disease type II or acid maltase deficiency, is a pan-ethnic autosomal recessive metabolic disorder.
  • It is characterized by a deficiency in the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen within lysosomes.
  • This generalized glycogen storage affects multiple organ systems, primarily impacting muscle function and leading to progressive mobility and respiratory issues.

Purpose of the Study:

  • To provide a comprehensive overview of Pompe's disease, encompassing its pathophysiology, clinical spectrum, and diagnostic approaches.
  • To highlight the significant advancements in patient care, particularly the development and approval of enzyme replacement therapy (ERT).
  • To discuss the latest insights into disease mechanisms and emerging therapeutic strategies.

Main Methods:

  • Review of existing literature on Pompe's disease, including genetic, biochemical, and clinical studies.
  • Analysis of the historical development and regulatory approval of enzyme replacement therapy (alglucosidase alfa).
  • Discussion of current clinical practices and future directions in the management of Pompe's disease.

Main Results:

  • Pompe's disease presents a broad clinical spectrum, affecting individuals from infancy to adulthood, with cardiac hypertrophy being a hallmark of the infantile form.
  • The advent of enzyme replacement therapy (ERT) with alglucosidase alfa, approved in 2006, has transformed the treatment landscape, offering a means to mitigate disease progression.
  • This therapeutic advancement positions Pompe's disease among a growing group of lysosomal storage disorders with available treatments.

Conclusions:

  • Enzyme replacement therapy represents a major breakthrough in managing Pompe's disease, significantly improving patient outcomes.
  • Continued research into disease pathophysiology and therapeutic interventions is crucial for further enhancing care for individuals with Pompe's disease.
  • Raising awareness and disseminating the latest knowledge on diagnosis and management are essential for optimizing patient care and outcomes.