[Lysosome disease--Sandhoff disease].

Article

[Lysosome disease--Sandhoff disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Eguchi I, Wakamatsu N, Nakano R, Tsuji S

Abstract excerpt

Lysosomal beta-hexosaminidase occurs as two major isozymes hexosaminidase A and B. The alpha subunit is encoded by the HEXA gene and the subunit by HEXB gene. Defects in the beta subunit lead to Sandhoff disease. Patients with the defect lack the activity or formation of both hexosaminidase A and...

Topics

Adolescent
Adult
Age of Onset
Hexosaminidase A
Hexosaminidase B
Humans
Infant
Mutation
Sandhoff Disease
beta-N-Acetylhexosaminidases

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