Galactosialidosis
ORPHA:351· ICD-10 E77.1
Definition
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages