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 the enzymes beta-galactosidase and neuraminidase. Without them the lysosomes of cells cannot function properly, and toxic matter accumulates inside the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment and intellectual disability. Because the lysosomes of all cells are involved, the disease can affect the brain, eyes, bones and muscles. Depending on the patient's age at the onset of symptoms it is divided into three subtypes: early infantile, late infantile, and juvenile or adult. The condition is considered rare, with most reported cases in the juvenile or adult group.