Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

ABSTRACT: Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb₃) and its derivative globotriaosylsphingosine or lyso-Gb₃. Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment. Case presentation: We describe two Kazakh patients who presented in adulthood with a de

SUBMITTER: Cainelli F 

PROVIDER: S-EPMC8110900 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature