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Updated: Jan 26, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.5K
[Skin Lesion in Fabry Disease]
Kazuya Tsuboi1, Tamotsu Kanzaki
1LSD Center, Nagoya Central Hospital.
Brain and Nerve = Shinkei Kenkyu No Shinpo
|April 17, 2019
Summary
Fabry disease, a metabolic disorder from alpha-galactosidase A deficiency, causes harmful glycolipid buildup. Key skin symptoms like angiokeratoma are vital for diagnosing this genetic condition.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Fabry disease is an inherited metabolic disorder.
- It stems from deficient alpha-galactosidase A enzyme activity.
- This deficiency leads to glycolipid accumulation in various tissues.
Purpose of the Study:
- To highlight the diagnostic significance of skin manifestations in Fabry disease.
- To connect enzyme deficiency to clinical symptoms.
Main Methods:
- Review of clinical characteristics of Fabry disease.
- Focus on dermatological findings.
Main Results:
- Skin lesions, specifically angiokeratoma, are prominent in Fabry disease.
- Associated symptoms include acroparesthesia and hypohydrosis.
- These clinical features are crucial for diagnosis.
Conclusions:
- Skin manifestations are key indicators for diagnosing Fabry disease.
- Understanding these symptoms aids in early identification and management.
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