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Overview of Hurler Syndrome by Gabrielle Evangelista is a document available to read on EtoBox.

What is Overview of Hurler Syndrome about?

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