An X-linked disorder affecting multiple organ systems characterized by an enzymatic defect due to a reduction in the catabolism of compounds comprising galactosyl, resulting in a deficiency of the lysosomal enzyme α-galactosidase A. This deficiency leads to pathology in multiple organs.
This deficiency results in the altered metabolism and an accumulation of globotriaosylceramide and other neutral glycolipids in various tissues throughout the body such as the heart, peripheral, and central nervous systems leading to pathology in multiple organs. Fabry syndrome (FS) is an X-linked disorder that manifests in males as well as females. Although symptom presentation in females is variable, some females experience symptoms characteristic of their male ca ...
- Fabry Syndrome
- Reference Work Title
- Encyclopedia of Child Behavior and Development
- pp 631-633
- Print ISBN
- Online ISBN
- Springer US
- Copyright Holder
- Springer Science+Business Media, LLC
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- Editor Affiliations
- 480. Neurology, Learning and Behavior Center
- 481. Department of Psychology MS 2C6, George Mason University
- Author Affiliations
- 1. Center for Psychological Studies, Nova Southeastern University, 3301 College Avenue, Fort Lauderdale, FL, USA
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