Clinical Information

Sialidosis, also known as mucolipidosis I, is an autosomal recessive lysosomal storage disorder (LSD) resulting from a deficiency of the enzyme neuraminidase. Clinical presentation can vary and phenotypes are typically categorized by age of onset. Type I is considered to be the milder form of sialidosis and is characterized by a cherry-red spot on the retina, progressive decreased acuity, impaired color vision, or night blindness. Neurologic problems include gait abnormalities and poorly controlled myoclonus. Type II sialidosis is distinguished from type I by the presence of dysmorphic features, including coarse facies, hepatosplenomegaly, and dysostosis multiplex, early age of onset, and its more rapid disease progression. Developmental delay is frequently present in type II sialidosis. The congenital form is typically associated with hydrops.

Galactosialidosis is an autosomal recessive lysosomal storage disease associated with a combined deficiency of neuraminidase and beta-galactosidase secondary to a defect in the cathepsin A protein. Clinical features are those typically associated with LSD including coarse facial features, cherry-red spots, and skeletal dysplasia. The disorder can be classified into 3 subtypes that vary with respect to age of onset and clinical presentation. The early infantile form is associated with fetal hydrops, visceromegaly, skeletal and ophthalmologic disorders, and early death. The late infantile form typically presents with short stature, dysostosis multiplex, coarse facial features, hepatosplenomegaly, and heart valve problems. The juvenile/adult form is characterized by progressive neurologic degeneration, ataxia, cognitive disability, and/or angiokeratomas. Most of the juvenile/adult onset cases have been found in individuals of Japanese ancestry. A diagnosis of galactosialidosis is obtained by demonstrating a combined deficiency of neuraminidase and beta-galactosidase in lymphocytes or cultured skin fibroblasts.