Defective NEU1 causes sialidosis

Stable Identifier
R-HSA-4341670
Type
Pathway
Species
Homo sapiens
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Sialidases have important roles in the degradation of glycoconjugates by removing terminal sialic acid residues.
Defects in sialidase 1 (NEU1) cause sialidosis, a lysosomal storage disease characterised by the progressive lysosomal storage of sialidated glycopeptides and oligosaccharides and the accumulation and excretion of N-acetylneuraminic acid (Neu5Ac) covalently-linked ('bound') glycoconjugates (Lowden & O'Brien 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' Neu5Ac. Sialidosis manifests into types I and II forms. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type.

Literature References
PubMed ID Title Journal Year
107795 Sialidosis: a review of human neuraminidase deficiency

Lowden, JA, O'Brien, JS

Am. J. Hum. Genet. 1979
Participants
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Disease
Name Identifier Synonyms
lysosomal storage disease 3211 lysosomal storage metabolism disorder, inborn lysosomal enzyme disorder, disorder of lysosomal enzyme (disorder)
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