Article ; Online: Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.
2024 Volume 43 Suppl 2, Page(s) 91–95
Abstract: Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a ... ...
| Abstract | Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males. This is due to the X chromosome inactivation phenomenon. We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level. |
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| MeSH term(s) | Male ; Female ; Humans ; Fabry Disease/genetics ; Fabry Disease/pathology ; X Chromosome Inactivation ; alpha-Galactosidase/genetics ; alpha-Galactosidase/metabolism ; Kidney/pathology ; Phenotype |
| Chemical Substances | alpha-Galactosidase (EC 3.2.1.22) |
| Language | English |
| Publishing date | 2024-01-25 |
| Publishing country | Spain |
| Document type | Case Reports |
| ZDB-ID | 2837917-2 |
| ISSN | 2013-2514 ; 2013-2514 |
| ISSN (online) | 2013-2514 |
| ISSN | 2013-2514 |
| DOI | 10.1016/j.nefroe.2024.01.018 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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