Problem Unit #4

Copyright 1999, E.C. Niederhoffer

Clinical Correlation 8.7

The following table is a corrected version of the one appearing in Devlin on p. 349.

Enzymic Defects in Degradation of Asn-GlcNAc Type Glycoproteinsa
 Disease  Deficient Enzymeb
 Aspartylglycosylaminuria  4-L-Aspartylglycosylamine amidohydrolase (a)
 b-Mannosidosis  b-Mannosidase (7)
 a-Mannosidosis  a-Mannosidase (3)
 GM2 Gangliosidosis variant O
 (Sandhoff-Jatzkewitz disease)
 b-N-Acetylhexosaminidases (A and B) (4)
 GM1 Gangliosidosis  b-Galactosidase (5)
 Mucolipidosis I (Sialidosis)  Sialidase (6)
 Fucosidosis  a-Fucosidase (8)

 a A typical Asn-GlcNAc oligosaccharide structure:

 b The numbers in parentheses refer to the enzymes that hydrolyze those bonds.

 

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