Case Reports Clinical Chemistry 2025 Exercise 2: Evaluation of a Male Pediatric Patient with Low Alpha-Galactosidase A Activity

Author

Michael E. Walsh, Ph.D., DABCC

Department of Pathology

Dartmouth Hitchcock Medical Center

Lebanon, New Hampshire

Primary Audience: Pathologists and Clinical Scientists
Secondary Audience: Residents, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants,  Laboratory Directors and Educators

Upon completion of this activity, you will be able to:

·       explain the biochemical cause of Fabry disease;

·       recognize the signs and symptoms of Fabry disease;

·       evaluate methods for the diagnosis of Fabry disease ; and

·       describe the mechanisms behind different treatment approaches to Fabry disease.