Lysosomal Storage Diseases Flashcards
What is a Lysosomal storage disease?
Group of disorders caused by deficiency of a lysosomal enzime
Lysosomal Storage Diseases common manifest at what age
Infancy or early childhood
All Lysosomal Storage diseases cause
Cognitive Disability + Failure to thrive (Except Fabry disease)
All Lysosomal Storage diseases follows an ___________ inheritance pattern
Autosomal Recessive (Except Fabry Disease and Hunter Syndrome)
Fabry Disease and Hunter Syndrome inheritance pattern
X-Linked Recessive
Tay-Sachs Disease:
Deficient enzime and accumulated molecule
- Hesoxaminidase deficiency
- Elevated GM2 ganglioside
Tay-Sachs Disease:
Clinical features
-Prevalent in Ashkenasi Jews
- FTT + Hypotonia + Cherry-Red Macule (BLINDNESS)
Niemman-Pick disease: Deficient enzyme and accumulated molecule
- Sphingomyelinase deficiency
- Elevated Sphingomyelin
Niemman-Pick disease: Clinical Features
- FTT + Cherry-Red Macula + Hepatoesplenomegaly
- Foam cells in pathology
Gaucher disease: Deficient enzime and accumulated molecule
- Glucocerebrosidase deficiency
- Elevated Glucocerebrosidase
Gaucher disease: Clinical features
- FTT + BONE ABNORMALITIES + PANCYTOPENIA
- Pathology: Gaucher Cells (Crumbled paper)
Fabry disease: Deficient enzime and accumulated molecule
- Alpha Galactoside A Deficiency
- Elevated Ceramide Trihexoside
Fabry disease: Clinical features
- X-LINKED Inheritance
- Angiokeratomas + Hypohidrosis + neuropathy + CV disease
Krabbe disease: Deficient enzime and accumulated molecule
- Galactocerebrosidase deficiency
- Elevated Galactocerebrosidase
Krabbe disease: Clinical features
- FTT + OPTIC ATROPHY + Globoid cells
Why Hurler and Hunter Syndrome are different from other Lysosomal Storage diseases
The molecule accumulated is mostly proteic
Hurler Syndrome: Deficient enzime and accumulated molecule
- Alpha-idunonidase deficiency
- Elevated Heparan Sulfat
Hurler Syndrome: Clinical features
- Corneal clouding + Gargoylism + Cardiomyopathy
Hunter Syndrome: Deficient enzime and accumulated molecule
- Idunonate-2-Sulfatase deficiency
- Elevated Heparin Sulfate
Hunter Syndrome: Clinical Features
- X-Linked inheritance
- FTT + Gargoylism + Aggresive behavior + HEARING LOSS-
Which conditions have Cherry-Red Macule
Tay Sachs and Niemman-Pick
Which condition cause Hepatoesplenomegaly and has Foam cells
Niemann Pick disease
Which condition has Crumbled paper like cells
Gaucher disease
Which condition cause bone abnormalities and pancytopenia
Gaucher Disease
Which condition cause Hypohidrosis and Angiokeratomes
Fabry Disease
Which condition has globoid cells
Krabe Disease
Krabbe disease main clinical feature
Can cause OPTICAL ATROPHY