Overview

aspartylglycosaminuria


'aspartylglycosaminuria' can also refer to...

 

More Like This

Show all results sharing this subject:

  • Chemistry

GO

Show Summary Details

Quick Reference

A lysosomal storage disease caused by deficiency of the threonine peptidase, N-aspartyl-β-glucosaminidase (EC 3.5.1.26, 346 aa) that cleaves the asparagine from the residual N-acetylglucosamines produced by breakdown of glycoproteins. The Finnish form is characterized by severe mental retardation, sagging cheeks, and various skeletal abnormalities.

Subjects: Chemistry.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.