MPS BIOCHEM

Question 1

(1-H)

Answer 1

Hurler Syndrome
α-L-iduronidase
Most severe

Question 2

(1-S)

Answer 2

Scheie Syndrome
α-L-iduronidase
Mildest

Question 3

(1-H/S)

Answer 3

Hurler-Scheie Syndrome
α-L-iduronidase
Intermediate

Question 4

Hunter Syndrome

Answer 4

Iduronate 2-sulfatase
2A: Neuronopathic form (severe; early progressive)
2B: Non-neuronopathic form (mild; slowly progressive)

Question 5

Sanfilippo

Syndrome

Answer 5

3-A: Heparan N-sulfatase
3-B: α-N-acetylglucosaminidase
3-C: Heparan-α-glucosaminide N-acetyltransferase
3-D: N-acetylglucosamine 6-sulfatase

Question 6

(4-A)

Answer 6

N-acetylgalactosamine 6-sulfatase

Accumulation of keratan and chondroitin sulfates

Question 7

(4-B)

Answer 7

β-galactosidase
Accumulation of keratan sulfate;
Milder and fewer clinical features

Question 8

Maroteaux-Lamy

Syndrome

Answer 8

N-acetylgalactosamine 4-sulfatase

Accumulation of dermatan sulfate

Question 9

Sly Syndrome

Answer 9

β-glucuronidase

Accumulation of dermatan, heparan and chondroitin Sulfates

Question 10

DiFerrante Syndrome

Answer 10

Glucosamine 6-sulfate sulfatase

With clinical and biochemical features of Morquio and Sanfilippo syndromes

Question 11

Natowicz Syndrome

Answer 11

Hyaluronidase

EXTREMELY RARE