About this document
Overview of Hurler Syndrome by Gabrielle Evangelista is a document available to read on EtoBox.
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by skeletal abnormalities, cognitive impairment, heart disease, and other issues. It is caused by the inability to produce an enzyme called lysosomal alpha-L-iduronidase. Diagnosis involves testing for increased metabolites in urine and detecting enzymatic deficiencies. Currently, there is no cure but management focuses on supportive care and enzyme replacement therapy.
- Author
- Gabrielle Evangelista
- Language
- EN