Problem Unit #4

Copyright 1999, E.C. Niederhoffer

Clinical Correlation 8.9

The following table is a corrected version of the one appearing in Devlin on p. 352.

Enzymic Defects in the Mucopolysaccharidoses
 Disease Accumulated Products   Deficient Enzymeb
 Hunter  Heparan sulfate
 Dermatan sulfate
 Iduronate sulfatase (1)
 Hurler + Scheie  Heparan sulfate
 Dermatan sulfate
 a-L-Iduronidase (2)
 Maroteaux-Lamy  Dermatan sulfate  N-Acetylgalactosamine sulfatase(3)
 Mucolipidosis VII  Heparan sulfate
 Dermatan sulfate
 b-Glucuronidase (5)
 Sanfilippo A  Heparan sulfate  Heparan sulfamidase (6)
 Sanfilippo B  Heparan sulfate  N-Acetylglucosaminidase (9)
 Sanfilippo D  Heparan sulfate  N-Acetylglucosamine-6-sulfatase (8)

 a Structures of dermatan sulfate and heparan sulfate:

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

 

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