Galactosialidosis | About the Disease | GARD
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Galactosialidosis: MedlinePlus Genetics
Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In people with galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to …
Galactosialidosis - Wikipedia
Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. [2] It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase.
Galactosialidosis – Ultra Rare Disease
Since its inception in 1981, our organisation has strived to support those in the rare community, expanding new-born screening, accelerating the development of orphan drugs, and acting instrumentally in establishing EURORDIS, ensuring people …
Galactosialidosis: historic aspects and overview of ...
Galactosialidosis is a glycoprotein storage disease caused by mutations in the CTSA gene, encoding lysosomal protective protein/cathepsin A (PPCA). The enzyme’s catalytic activity is distinct from its protective function towards β-galactosidase ...
Orphanet: Galactosialidosis
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Galactosialidosis - Rare Genomics Institute
What is Galactosialidosis? Galactosialidosis is a rare condition that affects many regions of the body due to complications with lysosomal storage. Lysosomes are a special compartment within the cells essential for breaking down and digesting various fats, sugars and proteins; they serve as the primary digestive structure for cells.
Jan 26, 2024 · Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In people with galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
Galactosialidosis - ISMRD
Galactosialidosis is caused by the absence of an enzyme called Protective Protein/Cathepsin A (PPCA). This enzyme works with two other enzymes, B- Galactosidase and Neuraminidase, to break down oligosaccharides.
What is Galactosialidosis – Galactosialidosis
Galactosialidosis is a rare genetic disorder characterized by the deficiency of an enzyme called protective protein/cathepsin A (PPCA). This enzyme is involved in the normal functioning of lysosomes, which are cellular structures responsible for breaking down various substances.