Lysosomal Storage Diseases Flashcards

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1
Q

What is a Lysosomal storage disease?

A

Group of disorders caused by deficiency of a lysosomal enzime

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2
Q

Lysosomal Storage Diseases common manifest at what age

A

Infancy or early childhood

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3
Q

All Lysosomal Storage diseases cause

A

Cognitive Disability + Failure to thrive (Except Fabry disease)

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4
Q

All Lysosomal Storage diseases follows an ___________ inheritance pattern

A

Autosomal Recessive (Except Fabry Disease and Hunter Syndrome)

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5
Q

Fabry Disease and Hunter Syndrome inheritance pattern

A

X-Linked Recessive

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6
Q

Tay-Sachs Disease:
Deficient enzime and accumulated molecule

A
  • Hesoxaminidase deficiency
  • Elevated GM2 ganglioside
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7
Q

Tay-Sachs Disease:
Clinical features

A

-Prevalent in Ashkenasi Jews
- FTT + Hypotonia + Cherry-Red Macule (BLINDNESS)

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8
Q

Niemman-Pick disease: Deficient enzyme and accumulated molecule

A
  • Sphingomyelinase deficiency
  • Elevated Sphingomyelin
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9
Q

Niemman-Pick disease: Clinical Features

A
  • FTT + Cherry-Red Macula + Hepatoesplenomegaly
  • Foam cells in pathology
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10
Q

Gaucher disease: Deficient enzime and accumulated molecule

A
  • Glucocerebrosidase deficiency
  • Elevated Glucocerebrosidase
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11
Q

Gaucher disease: Clinical features

A
  • FTT + BONE ABNORMALITIES + PANCYTOPENIA
  • Pathology: Gaucher Cells (Crumbled paper)
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12
Q

Fabry disease: Deficient enzime and accumulated molecule

A
  • Alpha Galactoside A Deficiency
  • Elevated Ceramide Trihexoside
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13
Q

Fabry disease: Clinical features

A
  • X-LINKED Inheritance
  • Angiokeratomas + Hypohidrosis + neuropathy + CV disease
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14
Q

Krabbe disease: Deficient enzime and accumulated molecule

A
  • Galactocerebrosidase deficiency
  • Elevated Galactocerebrosidase
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15
Q

Krabbe disease: Clinical features

A
  • FTT + OPTIC ATROPHY + Globoid cells
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16
Q

Why Hurler and Hunter Syndrome are different from other Lysosomal Storage diseases

A

The molecule accumulated is mostly proteic

17
Q

Hurler Syndrome: Deficient enzime and accumulated molecule

A
  • Alpha-idunonidase deficiency
  • Elevated Heparan Sulfat
18
Q

Hurler Syndrome: Clinical features

A
  • Corneal clouding + Gargoylism + Cardiomyopathy
19
Q

Hunter Syndrome: Deficient enzime and accumulated molecule

A
  • Idunonate-2-Sulfatase deficiency
  • Elevated Heparin Sulfate
20
Q

Hunter Syndrome: Clinical Features

A
  • X-Linked inheritance
  • FTT + Gargoylism + Aggresive behavior + HEARING LOSS-
21
Q

Which conditions have Cherry-Red Macule

A

Tay Sachs and Niemman-Pick

22
Q

Which condition cause Hepatoesplenomegaly and has Foam cells

A

Niemann Pick disease

23
Q

Which condition has Crumbled paper like cells

A

Gaucher disease

24
Q

Which condition cause bone abnormalities and pancytopenia

A

Gaucher Disease

25
Q

Which condition cause Hypohidrosis and Angiokeratomes

A

Fabry Disease

26
Q

Which condition has globoid cells

A

Krabe Disease

27
Q

Krabbe disease main clinical feature

A

Can cause OPTICAL ATROPHY