Related Experiment Videos
Fucosidosis in a native-born Briton
Journal of Clinical Pathology
|March 1, 1977
Summary
This study found a complete lack of alpha-L-fucosidase activity in a patient with adult fucosidosis. Residual enzyme activity may explain patient survival into adulthood.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Fucosidosis is a rare lysosomal storage disease.
- Adult-onset fucosidosis presents with progressive neurological decline.
- Enzyme deficiencies in fucosidosis lead to substrate accumulation.