galactosialidosis

Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. This deficiency inhibits the lysosomes of cells from functioning properly, resulting in the accumulation of toxic matter within the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis involves the lysosomes of all cells, it can affect various areas of the body, including the brain, eyes, bones, and muscles. Depending on the patient's age at the onset of symptoms, the disease consists of three subtypes: early infantile, late infantile, and juvenile/adult. This condition is considered rare, with most cases having been in the juvenile/adult group of patients.

== Signs and symptoms == thumb|right|(A) Typical facial features of galactosialidosis (B) Thoracolumbar kyphosis (C) Bilateral lower limb lymphedema The signs and symptoms of galactosialidosis range from mild to severe, and can vary amongst patients depending on the age of the individual when symptoms begin as well as the specific subtype of disease each person has. Symptoms can also vary amongst individuals within the same subtype, but it is known that the earlier a person shows symptoms, the more severe the disease tends to progress over time.