On the molecular basis of Sandhoff's disease

descriptionPublicationkeyboard_double_arrow_right Article 01 Nov 1973 English Publisher:Springer Science and Business Media LLCJournal:Humangenetik, volume 20, pages 167-170 (issn: 0340-6717, eissn: 1432-1203,

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Authors: H H, Ropers; U, Schwantes;

doi: 10.1007/bf00284854

pmid: 4785164

On the molecular basis of Sandhoff's disease

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Abstract

The results of Hooghwinkel et al. (1972) concerning the existence of a third human N-acetylhexosaminidase, designated C, are confirmed. This hexosaminidase exhibits low activity and has therefore generally been overlooked until now. We suggest that the hexosaminidase A represents a heteromer consisting of B- and C-subunits. According to this assumption Sandhoff's disease would reflect a defect at the hexosaminidase B-locus, whereas Tay-Sachs' disease would be attributable to deficient C-subunits.

Related Organizations

University of Freiburg
Germany
Umma University
Kenya

Keywords

Hexosaminidases, Humans, Syndrome, Lipidoses, Metabolism, Inborn Errors

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