5. Mucopolysaccharidoses Flashcards
enzyme deficient :
α-L-iduronidase
Hurler syndrome
MPS-I
enzyme deficient:
iduronate sulfatase
Hunter syndrome
MPS-II
what enzymes are deficient in San filippo syndrome
MPS-III
Type A: Heparan sulfate-N-sulfatase
B: α-N-acetylglucosaminidase
C: α-glucosaminidase N-acetyltransferase
D: N-acetylglucosamine 6-sulfatase
enzyme deficient in Morquio syndrome
MPS-IV
Type A: Galactose-6- sulfatase
B- ß-galactosidase
enzyme deficient :
ß-glucuronidase
Sly syndrome
MPS VII`
GAGs affected
dermatan sulfate
heparan sulfate
Hurier syndrome
Hunter syndrome
GAGs affected
heparansulfate
San filippo syndrome
GAGs affected
Morquio syndrome
A: Keratan and chondroitin-6-sulfate
B: keratan sulfate
GAGs affected
Dermatan sulfate
Heparan sulfate
Chondroitin sulfate
Sly syndrome
- MR
- coarse facial features
- hepatosplenomegaly
- corneal clouding
- death in childhood
Hurler syndrome
- MR
- coarse facial features
- hepatosplenomegaly
- NO corneal clouding
- death in childhood
- X-LINKED
hunter syndrome
- MR
* Hyperactivity
Sanfilippo
- skeletal dysplasia and short stature
- odontoid hypoplasia
- corneal clouding
- No CNS involvement
Morquio syndrome
- MR
- Corneal clouding
- Hepatosplenomegaly
- Skeletal dysplasia and short stature
Sly syndrome
All mucopolysacharidoses are autosomal recessive except
Hunter syndrome (X-linked recessive)
