Home > Encyclopedia of Genetic Disorders > Neuraminidase deficiency

Definition

Neuraminidase deficiency, or sialidosis, is a rare inherited metabolic disorder with multiple symptoms that can include skeletal abnormalities and progressive neurological degeneration.

Description

Nomenclature

Neuraminidase deficiency is caused by a mutation, or change, in the NEU1 gene that codes for the lysosomal enzyme alpha-N-acetylneuraminidase, or neuraminidase for short. This enzyme sometimes is referred to as sialidase. It is also sometimes called N-acetyl-neuraminic acid hydrolase. The disorder is manifested in one of two forms, known as sialidosis types I and II. Sialidosis type I is the milder form of the disorder, with...