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