Galactosialidosis is a glycoprotein storage disease; one of seven such identified diseases. Three different forms of galactosialidosis are identified, based on the age of onset of the symptoms. The early infantile form has its onset before three months of age, and infants show typical symptoms of hydrops, edema, splenohepatomegaly, cardiomegaly, impaired renal function, and skeletal changes, especially involving the spine. The late infantile form of the disease has its onset in the first few months of life, and is symptomatized by coarse facial features, hepatosplenomegaly, dysostosis multiplex, macular cherry-red spots, skeletal abnormalities, and mild mental retardation. The juvenile/adult form of the condition, however, is the most common, and has its onset around 16 years of age, although some patients only show symptoms in the fourth decade of their life. This form differs from the infantile ones by the presence of neurological problems like ataxia and seizures, and angiokeratomas. Other features remain the same.
Individuals suspected to have a glycoprotein storage disorder are asked to get their urine tested. Patients with galactosialidosis usually have a characteristic chromatographic profile of urinary oligosaccharides. A confirmation of the diagnosis can be made upon assaying the enzymatic activity of neuraminidase alpha, beta galactosidase or cathepsin A. For parents at risk for having an affected child, prenatal diagnosis is also available by way of chorionic villus sampling. There is no definite cure for the condition. Treatment is symptomatic.