半乳糖唾液酸贮积症

Also known as GALACTOSIALIDOSIS; GSL, Ppca Deficiency, Neuraminidase/Beta-Galactosidase Expression, Neuraminidase Deficiency With Beta-Galactosidase Deficiency, Goldberg Syndrome, GALACTOSIALIDOSIS, GSL, Cathepsin a Deficiency

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 c