5. Mucopolysaccharidoses Flashcards

1
Q

enzyme deficient :

α-L-iduronidase

A

Hurler syndrome

MPS-I

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2
Q

enzyme deficient:

iduronate sulfatase

A

Hunter syndrome

MPS-II

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3
Q

what enzymes are deficient in San filippo syndrome

MPS-III

A

Type A: Heparan sulfate-N-sulfatase
B: α-N-acetylglucosaminidase
C: α-glucosaminidase N-acetyltransferase
D: N-acetylglucosamine 6-sulfatase

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4
Q

enzyme deficient in Morquio syndrome

MPS-IV

A

Type A: Galactose-6- sulfatase

B- ß-galactosidase

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5
Q

enzyme deficient :

ß-glucuronidase

A

Sly syndrome

MPS VII`

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6
Q

GAGs affected

dermatan sulfate
heparan sulfate

A

Hurier syndrome

Hunter syndrome

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7
Q

GAGs affected

heparansulfate

A

San filippo syndrome

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8
Q

GAGs affected

Morquio syndrome

A

A: Keratan and chondroitin-6-sulfate
B: keratan sulfate

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9
Q

GAGs affected

Dermatan sulfate
Heparan sulfate
Chondroitin sulfate

A

Sly syndrome

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10
Q
  • MR
  • coarse facial features
  • hepatosplenomegaly
  • corneal clouding
  • death in childhood
A

Hurler syndrome

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11
Q
  • MR
  • coarse facial features
  • hepatosplenomegaly
  • NO corneal clouding
  • death in childhood
  • X-LINKED
A

hunter syndrome

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12
Q
  • MR

* Hyperactivity

A

Sanfilippo

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13
Q
  • skeletal dysplasia and short stature
  • odontoid hypoplasia
  • corneal clouding
  • No CNS involvement
A

Morquio syndrome

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14
Q
  • MR
  • Corneal clouding
  • Hepatosplenomegaly
  • Skeletal dysplasia and short stature
A

Sly syndrome

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15
Q

All mucopolysacharidoses are autosomal recessive except

A

Hunter syndrome (X-linked recessive)

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16
Q

All mucopolysaccharidoses have MENTAL RETARDATION EXCEPT

A

MoRquio = NO MR