Week 5: Medical Genetics- MPS

Question 1

Inheritance of Hurler Syndrome

Answer 1

AR

Question 2

GAG stored in Hurler Syndrome

Answer 2

Dermatan sulfate and Heparan sulfate

Question 3

3 major features of Hurler syndrome

Answer 3

Developmental regression, coarse face, corneal clouding

Question 4

Inheritance of Hunter Syndrome

Answer 4

XL

Question 5

GAG stored in Hunter syndrome

Answer 5

Dermatan sulfate and Heparan sulfate

Question 6

3 major features of Hunter syndrome

Answer 6

Developmental regression, coarse face, no corneal clouding

Question 7

Inheritance of Sanfillipo Syndrome

Answer 7

AR

Question 8

GAG stored in Sanfillipo Syndrome

Answer 8

Heparan sulfate

Question 9

3 major features of Sanfillipo Syndrome

Answer 9

CNS disease with ADHD/autistic features, mild coarse face, sleep problems

Question 10

Inheritance of Morquio syndrome

Answer 10

AR

Question 11

GAG stored in Morquio syndrome

Answer 11

Keratan sulfate, chondroitin-6-sulfate

Question 12

3 major features of Morquio syndrome

Answer 12

Bone- short stature, spinal/chest deformity, cardiac valvular disease

Question 13

Inheritance of Maroteaux Lamy

Answer 13

AR

Question 14

GAG stored in Maroteaux Lamy

Answer 14

Dermatan sulfate

Question 15

Age of onset Marateaux Lamy

Answer 15

Birth

Question 16

3 major features of Maroteaux Lamy

Answer 16

Short stature, HSM, cardiac valve disease

Question 17

Inheritance of Sly syndrome

Answer 17

AR

Question 18

GAG stored in Sly syndrome

Answer 18

Dermatan sulfate, heparan sulfate, chondroitin-4-sulfate, chondroitin-6- sulfate

Question 19

3 major features of Sly syndrome

Answer 19

Non-immune hydrous, dysostosis multiplex; later resembles Hunter/Hurler

Question 20

Gene in Hurler Syndrome

Answer 20

IDUA

Question 21

Treatment for Hurler Syndrome

Answer 21

HSCT, ERT

Question 22

Gene in Hunter Syndrome

Answer 22

IDS

Question 23

Treatment for Hunter Syndrome

Answer 23

HSCT, ERT

Question 24

Genes in Sanfillipo Syndrome

Answer 24

GNS, HGSNAT, NAGLU, SGSH

Question 25

Treatment in Sanfillipo Syndrome

Answer 25

None

Question 26

Gene in Morquio Syndrome

Answer 26

GALNS

Question 27

Treatment in Morquio Syndrome

Answer 27

ERT

Question 28

Gene in Maroteaux-Lamy Syndrome

Answer 28

ARSB

Question 29

Treatment for Maroteaux-Lamy Syndrome

Answer 29

ERT

Question 30

Gene in Sly Syndrome

Answer 30

GUSB

Question 31

Treatment in Sly Syndrome

Answer 31

Supportive