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

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Fabry disease

Toshinori Yuasa1, Toshihiro Takenaka2, Koji Higuchi3

  • 1Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima, Japan. yuasan@hotmail.com.

Journal of Echocardiography
|July 5, 2017
PubMed

Insights

Fabry disease, caused by alpha-galactosidase A deficiency, can cause heart problems. Early diagnosis using echocardiography is crucial for timely enzyme replacement therapy to prevent cardiac fibrosis.

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation.
  • Males typically exhibit more severe symptoms than females.
  • Cardiac variant of Fabry disease specifically affects the heart, causing hypertrophy and dysfunction.

Purpose of the Study:

  • To emphasize the importance of early diagnosis of Fabry disease.
  • To highlight echocardiography as a key diagnostic tool for cardiac Fabry disease.
  • To recommend considering Fabry disease in differential diagnoses for unexplained left ventricular hypertrophy.

Main Methods:

  • Review of clinical manifestations of Fabry disease.
  • Discussion of diagnostic utility of echocardiography in cardiac Fabry disease.
  • Analysis of treatment implications for early diagnosis.

Main Results:

  • Cardiac Fabry disease presents initially as symmetrical concentric left ventricular hypertrophy.
  • Progressive cardiac dysfunction and basal posterior wall thinning occur later.
  • Enzyme replacement therapy is most effective when initiated before cardiac fibrosis develops.

Conclusions:

  • Early diagnosis of Fabry disease is essential for effective treatment, particularly enzyme replacement therapy.
  • Echocardiography is an indispensable tool for the clinical diagnosis of cardiac Fabry disease.
  • Fabry disease should be considered in the differential diagnosis of unexplained left ventricular hypertrophy.

Keywords:
Enzyme replacement therapyFabry diseaseLeft ventricular hypertrophyα-Galactosidase A

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