Mucopolysaccharidosis

Mucopolysaccharidosis

Q. 1

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

Q. 1

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

Ans. B

Explanation:

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

 


Q. 2

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

Q. 2

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

Ans. A

Explanation:

Q. 3

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

Q. 3

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

Ans. C

Explanation:

Quiz In Between


Q. 4

Most common in mucopolysaccharidoses is-

 A

a)      Hunter’s disease

 B

b)      Hurler’s disease

 C

c)      Scheie disease

 D

d)      Sanfillippo disease

Q. 4

Most common in mucopolysaccharidoses is-

 A

a)      Hunter’s disease

 B

b)      Hurler’s disease

 C

c)      Scheie disease

 D

d)      Sanfillippo disease

Ans. D

Explanation:

Q. 5

Mucopolysaccharidoses with no corneal clouding-

 A

a)      Hunter’s disease

 B

b)      Hurler’s disease

 C

c)      Mosquio disease

 D

d)      Scheie disease

Q. 5

Mucopolysaccharidoses with no corneal clouding-

 A

a)      Hunter’s disease

 B

b)      Hurler’s disease

 C

c)      Mosquio disease

 D

d)      Scheie disease

Ans. A

Explanation:

Quiz In Between



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