Sialidosis (Mucolipidosis Type I)

Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as Type I and Type II.

Depending on the type of the disease – Type I or Type II- those anomalies can be observed which are: hydrops foetalis( prenatal), coarse facial appearance, dizostozis multiplex, muscle atrophy and weakness, hearing loss, and progressive loss of vision.

"The discovery of the structure of DNA transformed not only biology but also our understanding of what it means to be human."

Francis Crick