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.

"Genetic information offers an unlimited source of knowledge about human health and development; yet interpreting and applying this information places a huge responsibility on the scientific community."

James Watson