J Med Genet 2001;38:769-775 ( November )

Letters to the editor

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

K D MacDermot^a, A Holmes^a, A H Miners^b

^a Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, ^b Primary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, London NW3 2QG, UK

Correspondence to: Dr MacDermot, kmacdermot@ucl.rfc.ac.uk

The first 150 words of the full text of this article appear below.

	Introduction

EDITORAnderson-Fabry disease (AFD) is a sphingolipid storage disorder resulting from the deficiency of the lysosomal enzyme -galactosidase. Unlike most other lysosomal diseases, the inheritance is X linked. Disease manifestations in female heterozygotes have been reported, but are considered to be rare and usually mild.¹ Asymptomatic corneal dystrophy (cornea verticillata and posterior lenticular cataract) is present in about 70% and is useful for heterozygote detection. About 30% of women have minimal angiokeratomas and <10% have infrequent attacks of neuropathic pains.¹ However, female heterozygotes with severe and early cerebrovascular disease, strokes, and renal failure have been documented, but these serious manifestations were estimated to occur in only 1%.¹ Because this is an X linked disorder, these severe manifestations in females were explained by skewed X inactivation.²

Case reports are open to selection bias and there are no reported data on the frequency and severity of AFD manifestations in a large . . . [Full text of this article]

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