sialic acid storage disease
sialic acid storage disease
(1) An inherited condition characterised by an accumulation of sialic acid, primarily in the nervous system, with a wide range of signs and symptoms.Clinical forms
Infantile sialic acid storage disease, Salla disease and intermediate severe Salla disease.
(2) Sialuria, see there; formerly, French-type sialuria, MIM.269921.