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Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature.
- Source :
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi; Sep2019, Vol. 22 Issue 3, p154-158, 5p
- Publication Year :
- 2019
-
Abstract
- The article presents a case study of a 49-year-old woman with a diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) established 6 years before and complained of dyspnea with moderate exertion. It mentions the findings of Fabry disease (FD) through diagnosis which is a X-linked genetic disease caused by mutations in the GLA gene, and encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.
Details
- Language :
- English
- ISSN :
- 21492263
- Volume :
- 22
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi
- Publication Type :
- Academic Journal
- Accession number :
- 138425185
- Full Text :
- https://doi.org/10.14744/AnatolJCardiol.2019.47969