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Fabry Disease : Introduction

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Introduction: Fabry disease (aka Anderson-Fabry disease and angiokeratoma corporis diffusum) is an inherited X-linked recessive disorder caused by deficiency of the enzyme α-galactosidase A in lysosomes. There is progressive accumulation of neutral glycospingolipid globotriaosylceramide in lysosomes in various tissues, including heart, kidneys, neurons of dorsal root ganglia, bone marrow and blood vessels.

About this image: This gross specimen photograph of heart is from an elderly female with Fabry disease. Her two brothers died of the disease in their 30's and 40's. The gross pathologic findings usually include: cardiomegaly, left ventricular hypertrophy, asymmetric septal hypertrophy, thickening of papillary muscles, left atrial dilatation, and abnormalities of mitral and aortic valves.

Image courtesy of: Dr. Esther Youd, Autopsy Pathologist, Univ. of Glasgow, Glasgow, Scotland; used with permission.

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