© 2003 by BMJ Publishing Group & British Cardiac Society
EDITORIAL
Fabry disease
Correspondence to:
Correspondence to:
Sherif F Nagueh, MD, Section of Cardiology, 6550 Fannin Street, SM-1246, Houston, TX 77030-2717, USA;
sherifn@bcm.tmc.edu
It is incumbent upon physicians evaluating men with unexplained left ventricular hypertrophy—particularly those without severe outflow tract obstruction—to consider Fabry disease in the differential diagnosis
Keywords: Fabry disease; echocardiography; genetics; hypertrophy; metabolism
| The first 150 words of the full text of this article appear below. |
Fabry disease is a rare X linked recessive disorder resulting from a deficiency of the lysosomal enzyme 
galactosidase A. Accordingly, hemizygous males have the most severe form of the disease and heterozygous females usually have a more benign presentation.1 The enzymatic defect in this lysosomal storage disease leads to the accumulation of globotriaosylceramide in several organs including the skin, kidney, nervous system, cornea, and the heart. Patients with the classic form suffer from acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, and renal dysfunction. More than 160 mutations in the galactosidase A gene have been reported. Depending on the mutation, the enzyme activity may be reduced or abolished. In the more benign mutations, the enzyme activity and stability are reduced but the active site is still capable of binding to the substrate. These mutant forms of the protein may be stabilised by chemical chaperones such as galactose that bind
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