Mucopolysaccharidoses Flashcards
1
Q
Most serious disease of GAG degradation
Deficiency in alpha-L-iduronidase
Corneal clouding, hearing loss, etc
A
Hurler Syndrome
MPS I H
2
Q
X-linked disease of GAG degradation
Iduronate sulfatase deficiency
Wide range of severities
A
Hunter Syndrome
MPS II
3
Q
Four types
Degradation of heparin sulfate is mainly affected
Severe nervous system disorders
A
Sanfilipo syndrome
MPS III
4
Q
Beta-glucuronidase deficiency
Hepatosplenomegaly
A
SLY syndrome
MPS VII
