Mucopolysaccharidoses

Question 1

Hurler-, Scheie-Hurler-Scheie syndrome (MPS I)

Answer 1

Enzyme deficient: α-L-iduronidase

Type of GAGs: Dermatan sulfate, Heparan sulfate

Question 2

Hunter syndrome (MPS II)

Answer 2

Enzyme deficient: Iduronate sulfatase

Type of GAGs: Dermatan sulfate, Heparan sulfate

Question 3

Sanfilippo syndrome A (MPS III A)

Answer 3

Enzyme deficient: Heparan S- sulfamidase

Type of GAGs: Heparan sulfate

Question 4

Sanfilippo syndrome B (MPS III B)

Answer 4

Enzyme deficient: N-Acetyl-a-D-glucosaminidase

Type of GAGs: Heparan sulfate

Question 5

Sanfilippo syndrome C (MPS III C)

Answer 5

Enzyme deficient: Acetyl-CoA-Glucosaminide
N-acetyltransferase

Type of GAGs: Heparan sulfate

Question 6

Sanfilippo syndrome D (MPS III D)

Answer 6

Enzyme deficient: N-Acetylglucosamine
6-sulafate sulfatase

Type of GAGs: Heparan sulfate

Question 7

Morquio syndrome A (MPS IV A)

Answer 7

Enzyme deficient: N-Acetylgalactosamine-6-sulfate sulfatase

Type of GAGs: Keratan sulfate,
Chondroitin 6-sulfate

Question 8

Morquio syndrome B (MPS IV B)

Answer 8

Enzyme deficient: B-Galactosidase

Type of GAGs: Keratan sulfate

Question 9

Maroteaux Lamy syndrome

MPS VI

Answer 9

Enzyme deficient: N-Acetylgalactosamine-a- 4- sulfate sulfatase

Type of GAGs: Dermatan sulfate

Question 10

Sly syndrome (MPS VI)

Answer 10

Enzyme deficient: B-Glucuronidase

Type of GAGs: Dermatan sulfate, Heparan sulfate,Chondroitin 4-sulfate
Chondroitin 6-sulfate

Question 11

Natowicz syndrome

Answer 11

Enzyme deficient: Hyaluronidase

Type of GAGs: Hyaluronic acid