Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency.
Clin Chim Acta, 1979/12/03;99(2):107-12.
PMID: 116781
Impact factor: 6.314
Abstract
Neuraminidase was assayed in the frozen autopsy tissues from three patients with I-cell disease and an adult patient with cherry-red spots, myoclonus, cerebellar ataxia and beta-galactosidase deficiency. Both diseases showed normal neuraminidase activity toward neuramine lactose and fetuin in cerebral gray matter, liver and kidney. These results suggest that the neuraminidase deficiency is limited only to some tissues and that this biochemical abnormality is not caused by a primary genetic mutation in these diseases.
MeSH terms
Adolescent; Adult; Brain; Child; Female; Humans; Infant; Infant, Newborn; Kidney; Lactose Intolerance; Liver; Male; Mucolipidoses; Mucopolysaccharidosis III; Neuraminidase; Tay-Sachs Disease; Tissue Distribution
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