Molecular Biology
and Lysosomal Disease
Diagnosis Laboratory
Center for Research and Diagnosis of Genetic Diseases

Fabry Disease

The Fabry desease (also known as Anderson-Fabry desease) is a chronic condition that brings heart, brain and mainly renal isquemia.

The disease is a severe lysosomal deposit (LDD), progressive and potentially fatal desease, caused by the lack or absence of a lysosomal enzime, the alpha-galactosidase.

Many patients with this disease are incorrectly diagnosed and they can have many appointments with different experts before then final diagnostic. On both gender, there is a gap of 12 years between the beggining of the first symptons and the final diagnostic.

The lack of Alpha-galactosidase A in the lysosomes of the patients with Fabry disease results in the progressive accumulation of glycosphingolipid globotriaosylceramide (Gb3) in the many organic system cells, including the renal epithelial cells, myocardial cells and valvular fibrocytes, dorsal root ganglia and autonomic nervous system neurons, as well as vascular endothelial, perithelial and smooth muscle cells. This causes a bunch of symptons in many organs, including heart, kidneys, brain and skin, resulting many times on severe reflex on one or more systens and finally the death of the patient.

The first symptons can occour since the childhood, with a great worsening though the life.

On the absence of treatment, the life expectancy is reduced by 20 years in males and by 15 years in females, with the death usually due the renal failure, heart disease or a stroke.

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