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- Sahrai Saeed and Massimo Imazio.
- Sahrai Saeed, Department of Heart Disease, Haukeland University Hospital, Bergenm Norway.
- Pak J Med Sci. 2022 Nov 1; 38 (8): 237323752373-2375.
AbstractFabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity. The disturbed catabolism of the neutral sphingolipids globotriaosylceramide (Gb3) leads to its progressive lysosomal accumulation throughout the body. Multiple organs can be affected. The atypical late-onset cardiac variant is associated with a high burden of cardiac morbidity and mortality. The true burden of FD in Central and some South Asian countries is unknown. Lack of research studies and awareness, and misdiagnosis/underdiagnosis may be the reasons. Some possible explanations as well suggestions for a structured Fabry care and research possibilities in these WHO regions are offered.Copyright: © Pakistan Journal of Medical Sciences.
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