Sialidosis: a review of human neuraminidase deficiency

Lowden, J.A.; O'Brien, J.S.

American Journal of Human Genetics 31(1): 1-18


ISSN/ISBN: 0002-9297
PMID: 107795
Accession: 068520863

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The clinical phenotype of primary human neuraminidase [EC] deficiency is reviewed. The term sialidosis is used to describe patients with primary neuraminidase deficiency and it should be reserved exclusively for this condition. The clinical genetics of sialidosis, the chemistry of the compounds stored, the molecular genetics of acid neuraminidase, the secondary neuraminidase deficiencies in other disorders, the secondary deficiency of .beta.-galactosidase in some patients with sialidosis and laboratory methods for diagnosis are discussed.