Fabry's disease

• X-linked disorders (single base substitutions or big rearrangements) of glycolipid metabolism due to low level of lysosomal alpha-galactosidase A.
• Globotriaosylceramide is deposited in the skin (angiokeratoma corporis diffusum), kidneys and the vasculature.
• Most die in the first decade.
• Cardiac signs include 
• infarction, 
• angina, 
• short PR interval, 
• arrhythmias, 
• LVH, 
• CCF, 
• mitral valve lesions, 
• congestive or obstructive cardiomyopathies.
• Treatment: biweekly infusions of recombinant human alpha-galactosidase A are save and effective.