Mucopolysaccharidosis
What is the enzymatic defect which causes Hunter’s Disease?
| A |
a) L- Iduronidase |
|
| B |
b) Iduronate sulphatase |
|
| C |
c) Beta Galactosidase |
|
| D |
d) All of the above |
What is the enzymatic defect which causes Hunter’s Disease?
| A |
a) L- Iduronidase |
|
| B |
b) Iduronate sulphatase |
|
| C |
c) Beta Galactosidase |
|
| D |
d) All of the above |
Explanation-
- Inheritence- X-linked Recessive
- Defective enzyme- Iduronate Sulphatase
- Clinical Features-
- slower progression of somatic and central nervous system (CNS) deterioration
- large tongue
- prominent forehead
- joint stiffness
- short stature
- skeletal dysplasia
- obstructive airways
- Valvular heart disease
- Mental retardation
All mucopolysaccharidoses are autosomal recessive except?
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) San fillippo disease |
|
| D |
d) None of the above |
All mucopolysaccharidoses are autosomal recessive except?
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) San fillippo disease |
|
| D |
d) None of the above |
Mental deterioration is associated with impaired degradation in mucopolysaccharidoses of-
| A |
a) Dermatan Sulphate |
|
| B |
b) Keratan sulphate |
|
| C |
c) Heparan sulphate |
|
| D |
d) None |
Mental deterioration is associated with impaired degradation in mucopolysaccharidoses of-
| A |
a) Dermatan Sulphate |
|
| B |
b) Keratan sulphate |
|
| C |
c) Heparan sulphate |
|
| D |
d) None |
Most common in mucopolysaccharidoses is-
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) Scheie disease |
|
| D |
d) Sanfillippo disease |
Most common in mucopolysaccharidoses is-
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) Scheie disease |
|
| D |
d) Sanfillippo disease |
Mucopolysaccharidoses with no corneal clouding-
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) Mosquio disease |
|
| D |
d) Scheie disease |
Mucopolysaccharidoses with no corneal clouding-
| A |
a) Hunter’s disease |
|
| B |
b) Hurler’s disease |
|
| C |
c) Mosquio disease |
|
| D |
d) Scheie disease |




