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Fabry disease
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Fabry disease is a lysosomal storage disorder. Lysosomes are the compartments where the cell breaks down what it no longer needs, and in this disease the enzyme required there fails: alpha-galactosidase A. It is inherited in an X-linked pattern and affects many body systems at once.
The problem is one of buildup. Without that enzyme working, a complex fat called globotriaosylceramide gradually collects inside the lysosomes of cells throughout the body. The trash never leaves the house: the cell keeps storing it in the same room until it gets in the way.
That progressive buildup shows up most of all in the endothelium, the layer of cells that lines the inside of blood vessels: it swells and proliferates. And the organs most often affected include the skin, the heart, the kidneys and the brain.
In brief
Fabry disease is an X-linked multisystem lysosomal storage disorder caused by defective function of the enzyme alpha-galactosidase A.
Without that enzyme, globotriaosylceramide builds up progressively inside the lysosomes of cells throughout the body.
The trash never leaves the house: the cell keeps storing it in the same room until it gets in the way.
That buildup causes the vascular endothelium to swell and proliferate; the organs most often affected include the skin, heart, kidneys and brain.
Sources (1)
- National Center for Biotechnology Information, StatPearls PublishingFabry Disease, StatPearlsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated