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Neuro Week 5 > Lysosomal Storage Disorders > Flashcards

Lysosomal Storage Disorders Flashcards

1
Q

what is inheritance of Tay Sachs?

A

AR

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2
Q

what is seen in eye with tay sachs?

A

cherry red spot

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3
Q

what is enzyme deficiency in tay sachs?

A

hexosaminidase A tAy saX

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4
Q

does tay sachs have hepatosplenomegaly?

A

NO

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5
Q

what are symptoms of tay sachs?

A

DD, hyperreflexia, neurodegeneration

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6
Q

what builds up in tay sachs disease?

A

GM2 gnaglioside

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7
Q

how is fabry disease inherited?

A

XR

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8
Q

what is enzyme deficiency in fabry disease?

A

a galactosidase A

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9
Q

what accumulates in fabry disease/

A

ceramide trihexoside

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10
Q

what is early triad of fabry disease?

A

peripheral neuropathy, angiokeratomas, hypohidrosis

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11
Q

what is later symptoms of fabry disease/

A

progressive renal failure and cardiovascular disease

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12
Q

what is inheritance of gaucher disease?

A

AR

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13
Q

what is enzyme issue in gaucher disease?

A

glucocerebrosidase

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14
Q

what builds up in gaucher disease?

A

glucocerebroside

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15
Q

what is histo finding in gaucher disease?

A

tissue paper laden macros called Gaucher cells

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16
Q

what are symptoms of gaucher disease?

A

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

17
Q

which of the lysosome storage diseases has bone issues?

A

gaucher disease

18
Q

what in inheritance of Niemman Pick disease?

A

AR

19
Q

what is enzyme problem in Niemman Pick?

A

sphingomyelinase

20
Q

what builds up in niemann pick?

A

sphingomyelin

21
Q

what is seen in eye with Niemann Pick?

A

cherry red spot on macula

22
Q

what are main symptoms of Niemann pick?

A

neurodegeneration, hepatosplenomegaly

23
Q

you see a cherry red spot on macula, how do we differentiate between tay sachs and niemann pick?

A

tay sachs does not have hepatosplenomegaly and niemann pick does

24
Q

name the two mucopolysaccharidoses

A

Hurler and Hunter disease

25
Q

what is inheritance of Hurler syndrome?

A

AR

26
Q

what is enzyme issue in Hurler Syndrome?

A

a-L-iduronidase

27
Q

what builds up in Hurler syndrome?

A

heparan sulfate and dermatan sulfate

28
Q

what are symptoms of hurler syndrome/

A

DD
corneal clouding
hepatosplenomegaly

29
Q

what are symptoms of Hunter syndrome?

A

mild form or hurlers…so DD and hepatosplenomegaly but NO CORNEAL CLOUDING

30
Q

what is enzyme issue in Hunters syndrome?

A

iduronate-2-sulfatase

31
Q

what is buildup in Hunter syndrome?

A

heparan sulfate and dermatan sulfate

32
Q

what is inheritance of Hunter Syndrome?

A

XR…hunters aim for the X

33
Q

what are the two sphingolipidoses and mucopolysaccharidoses that are X linked recess?

A

Hunters and Fabry disease

Neuro Week 5 (4 decks)

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