Medicine
法布里病
Fabry diseaseFabry disease is a rare genetic lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A and the accumulation of globotriaosylceramide in cells. / 法布里病是一种罕见的遗传性溶酶体贮积症，由GLA基因突变引起，导致α-半乳糖苷酶A活性缺乏，细胞内三己糖酰基鞘氨醇（Gb3）蓄积。
- Knowledge type
- 自然理论
- First proposed or discovered
- Proposer
- Turkey Farm member
- Creator
- 农场主
- Last updated
- 2026-11-09 23:06:03
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Main parameters and performance indicators
GLA gene mutation: Genetic causeAlpha-galactosidase A deficiency: Enzymatic defectGlobotriaosylceramide accumulation: Pathological hallmark
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Related literature
ranked by community starsCurrent and emerging biomarkers in Fabry disease: diagnosis to treatment applications—a literature reviewOpen source
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Creation and modification trail
1 recordsRecord title: Fabry disease.
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