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Fabry Disease

^* Consultant Neurologist, Department of Neurology,
Consultant Neuroradiologist, Department of Radiology and
Consultant Haematologist, Department of Haematology, Royal Free Hospital, Pond Street, London, UK; E-mail: Lionel.Ginsberg{at}royalfree.nhs.uk

EXTRACT

INTRODUCTION

Fabry disease, also known as Anderson–Fabry disease, is an X-linked inborn error of metabolism caused by deficiency of the lysosomal enzyme -galactosidase A, the gene for which is localized at Xq22. It is the second most common lysosomal storage disorder (after Gaucher disease). Birth frequency estimates range from 1 : 20 000 to 1 : 100 000. As a consequence of the enzyme defect, neutral glycosphingolipids, notably globotriaosylceramide (Gb₃), accumulate in many tissues, including the nervous system, vascular endothelium, heart, kidney, eye and gastrointestinal tract.

NON-NEUROLOGICAL MANIFESTATIONS

A characteristic skin rash – angiokeratoma corporis diffusum – is the consequence of ectasia of individual blood vessels, covered by a few layers of skin, which may become hyperkeratotic. The lesions are flat or slightly raised, dark red to blue in colour, and are usually found in the ‘bathing trunks’ area (Fig. 1), though often they are more widely distributed. Telangiectasias may also ...

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