Galactosialidosis

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase.

**Synonyms:** - GSL - Goldberg Syndrome - Neuraminidase Deficiency with Beta-Galactosidase Deficiency