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Updated: Jun 10, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Management of Fabry disease]
Tamás Constantin1, Annamária Székely, Andrea Ponyi
1Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika Budapest Tuzoltó u. 7-9. 1094.
Orvosi Hetilap
|July 27, 2010
Summary
Fabry disease, a rare genetic disorder, causes harmful substance buildup. This guideline aids physicians in diagnosing and treating Fabry disease, improving patient outcomes.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Biochemistry of sphingolipids
Context:
- Fabry disease is a rare, X-linked lysosomal storage disorder.
- Characterized by globotriaosylceramide accumulation in tissues.
- Progressive nature, with symptoms often appearing in childhood, leading to disability and premature death.
Purpose:
- To establish a comprehensive guideline for the diagnosis and treatment follow-up of Fabry disease.
- To provide a framework for Hungarian physicians involved in Fabry patient care.
- To synthesize current knowledge from clinical studies and international guidelines.
Summary:
- The guideline addresses the diagnosis and management of Fabry disease, a condition involving globotriaosylceramide buildup.
- It acknowledges that Fabry disease affects both males and females, with varying severity.
- Enzyme replacement therapy is a key consideration in the treatment approach.
Impact:
- Facilitates standardized diagnosis and treatment of Fabry disease.
- Aims to improve the quality of life and prognosis for patients.
- Supports healthcare professionals in managing this complex genetic disorder.
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