Lysosomal Storage Diseases

Question 1

What is a Lysosomal storage disease?

Answer 1

Group of disorders caused by deficiency of a lysosomal enzime

Question 2

Lysosomal Storage Diseases common manifest at what age

Answer 2

Infancy or early childhood

Question 3

All Lysosomal Storage diseases cause

Answer 3

Cognitive Disability + Failure to thrive (Except Fabry disease)

Question 4

All Lysosomal Storage diseases follows an ___________ inheritance pattern

Answer 4

Autosomal Recessive (Except Fabry Disease and Hunter Syndrome)

Question 5

Fabry Disease and Hunter Syndrome inheritance pattern

Answer 5

X-Linked Recessive

Question 6

Tay-Sachs Disease:
Deficient enzime and accumulated molecule

Answer 6

• Hesoxaminidase deficiency
• Elevated GM2 ganglioside

Question 7

Tay-Sachs Disease:
Clinical features

Answer 7

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

Question 8

Niemman-Pick disease: Deficient enzyme and accumulated molecule

Answer 8

• Sphingomyelinase deficiency
• Elevated Sphingomyelin

Question 9

Niemman-Pick disease: Clinical Features

Answer 9

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

Question 10

Gaucher disease: Deficient enzime and accumulated molecule

Answer 10

• Glucocerebrosidase deficiency
• Elevated Glucocerebrosidase

Question 11

Gaucher disease: Clinical features

Answer 11

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

Question 12

Fabry disease: Deficient enzime and accumulated molecule

Answer 12

• Alpha Galactoside A Deficiency
• Elevated Ceramide Trihexoside

Question 13

Fabry disease: Clinical features

Answer 13

• X-LINKED Inheritance
• Angiokeratomas + Hypohidrosis + neuropathy + CV disease

Question 14

Krabbe disease: Deficient enzime and accumulated molecule

Answer 14

• Galactocerebrosidase deficiency
• Elevated Galactocerebrosidase

Question 15

Krabbe disease: Clinical features

Answer 15

• FTT + OPTIC ATROPHY + Globoid cells

Question 16

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

Answer 16

The molecule accumulated is mostly proteic

Question 17

Hurler Syndrome: Deficient enzime and accumulated molecule

Answer 17

• Alpha-idunonidase deficiency
• Elevated Heparan Sulfat

Question 18

Hurler Syndrome: Clinical features

Answer 18

• Corneal clouding + Gargoylism + Cardiomyopathy

Question 19

Hunter Syndrome: Deficient enzime and accumulated molecule

Answer 19

• Idunonate-2-Sulfatase deficiency
• Elevated Heparin Sulfate

Question 20

Hunter Syndrome: Clinical Features

Answer 20

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

Question 21

Which conditions have Cherry-Red Macule

Answer 21

Tay Sachs and Niemman-Pick

Question 22

Which condition cause Hepatoesplenomegaly and has Foam cells

Answer 22

Niemann Pick disease

Question 23

Which condition has Crumbled paper like cells

Answer 23

Gaucher disease

Question 24

Which condition cause bone abnormalities and pancytopenia

Answer 24

Gaucher Disease

Question 25

Which condition cause Hypohidrosis and Angiokeratomes

Answer 25

Fabry Disease

Question 26

Which condition has globoid cells

Answer 26

Krabe Disease

Question 27

Krabbe disease main clinical feature

Answer 27

Can cause OPTICAL ATROPHY