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- Title
Mulberry body in a patient with Fabry disease.
- Authors
Ono, R; Hirose, M; Kobayashi, Y
- Abstract
Fabry disease is an X-linked lysosomal storage disorder of the sphingolipid metabolism, caused by deficiency of alpha-galactosidase or its low activity.[1] Urinary mulberry bodies are the characteristic feature of Fabry disease, which are products of glycosphingolipids such as globotriaosylceramide.[2] In our case, left ventricular hypertrophy and chronic proteinuria were the key findings to suspect Fabry disease, while identifying the mulberry body was crucial for a definitive diagnosis. Further investigations revealed decreased alpha-galactosidase activity (0.6 nmol/h/mg), which led to the definitive diagnosis of Fabry disease. Fabry disease is treatable with enzyme replacement therapy with agalsidase alpha or beta; thus, the identification of mulberry body is a useful, noninvasive tool for the early detection of Fabry disease.[3] I Conflict of interest i : None declared.
- Subjects
ANGIOKERATOMA corporis diffusum; GLYCOGEN storage disease type II; MULBERRY; BRAIN natriuretic factor; ENZYME replacement therapy; LEFT ventricular hypertrophy
- Publication
QJM: An International Journal of Medicine, 2022, Vol 115, Issue 7, p473
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcac120