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.
References in periodicals archive ?
Sialic acid accumulated in the cell is stored as free sialic acid as observed in Salla disease and infantile sialic acid storage disease or accumulates as bound to other glycopeptides or oligosaccharides as observed in sialidosis.
Sialic acid storage diseases (SSDs) (3) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form, infantile sialic acid storage disease (ISSD), or as a slowly progressive adult form that is prevalent in the Finnish population, called Salla disease (1).
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease.
Sialic acid storage disease (SASD) is a rare autosomal recessive lysosomal storage disorder characterized by excessive urinary excretion of free sialic acid and an accumulation of free sialic acid in skin fibroblasts (1).
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
3) Sialic acid storage disease 2 2 (0-3) Tay-Sachs disease (e) 21 4 (0-27) Tay-Sachs disease 2 7 (6-8) (A/B variant) (e,f) Wolman disease (e) 2 0.