Fabry+disease+info

Fabry disease is an inherited metabolic disorder in which harmful amounts of specific sphingolipids accumulate within lysosomes of cells.

Individuals do not produce enough of one of the enzymes needed to metabolize these sphingolipids.

The buildup of lipids in the lysosomes causes clinical findings of this disease.

Over time, this excessive storage of lipids in the lysosomes can cause permanent cellular and tissue damage, particularly in the autonomic nervous system, eyes, kidneys, and cardiovascular system.

Accumulation of lipids in the wall of blood vessels.

The symptoms usually show up during childhood or adolescence. Symptoms include burning pain in the extremities, corneal clouding (but no change in vision), gastrointestinal problems such as diarrhea and abdominal pain, and decreased sweating. In adolescence or adult life, progressive renal impairment, cardiomyopathy and stroke. Individuals with milder type of the disease have later-onset that are usually limited to the heart.


 * Statewide screening of newborns for lysosomal storage disorders is scheduled to begin in 2012. **

Treatment for Fabry disease is not typically required in early childhood. Once clinical findings appear, treatment includes medications to treat pain and gastrointestinal distress. Enzyme replacement therapy is available and reduces the rate of progression of renal and cardiovascular disease.

Fabry disease is an X-linked disorder. Males inheriting the X-linked gene mutation are always affected although the disorder is variable in age of onset and severity. Females who inherit the gene for Fabry disease also are affected, although clinical symptoms often develop at a later age and may be less severe than in affected males.


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