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Sialidosis type 2

Synonyms
CHERRY RED SPOT--MYOCLONUS SYNDROME; GLYCOPROTEIN NEURAMINIDASE DEFICIENCY; LIPOMUCOPOLYSACCHARIDOSIS; ML I; Mucolipidosis I; Mucolipidosis type 1; NEU 1 deficiency; NEU DEFICIENCY; NEUG DEFICIENCY; NEURAMINIDASE 1 DEFICIENCY; NEURAMINIDASE DEFICIENCY; SIALIDASE DEFICIENCY; SIALIDOSIS, TYPE II
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. 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. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis. [from OMIM]

Available tests

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Clinical tests (45 available)

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Molecular Genetics Tests

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  • Also known as: NANH, NEU, SIAL1, NEU1
    Summary: neuraminidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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