Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these sub...
Found on
http://en.wikipedia.org/wiki/Sialidosis
Synonym for cherry-red spot myoclonus syndrome ... <syndrome> A neuronal storage disorder in children characterised by a cherry red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type 1 is characterised by normal body habitus, cherry red macula, myoclonus, and normal beta-galacto...
Found on
http://www.encyclo.co.uk/local/20973
(si-al″ĭ-do´sis) an autosomal recessive disorder due to a deficiency of sialidase; there are two different types: Type I is of adolescent or adult onset and is characterized by myoclonus, cherry-red spots in the eyes with progressive loss of vision, and storage of oligosaccharides with sialic acid residues. Type II...
Found on
http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: sī-al′i-dō′sis Synonyms: cherry-red spot myoclonus syndrome
Found on
http://www.medilexicon.com/medicaldictionary.php?t=81665
Sialidosis: A form of mucolipidosis characterized by deficiency of acid alpha-N-acetyl- neuraminidase (sialidase). See also mucolipidosis, mucopolysaccharidosis.
Found on
http://www.medterms.com/script/main/art.asp?articlekey=11231
sialidosis An autosomal recessive disorder due to a deficiency of sialidase, occurring as two types with differing manifestations. Type I is of adolescent or adult onset and is characterized by myoclonus, ocular cherry red spot with progressive loss of visual acuity, and storage of sialyloligosaccharides. Type II is additionally characterized by ...
Found on
http://www.wordinfo.info/words/index/info/view_unit/1954/2
No exact match found.
