Lysosomal Storage Diseases

Question 1

Tay Sachs

Answer 1

HeXosaminidase A def –> GM2 ganlgioside buildup

• Neurodegeneration, dev delay, cherry red macula spots, lysosomes w/ onion skin BUT NO HEPATOSPLENOMEGALY

saX - heXo

Question 2

Fabry

Answer 2

only one that is X-linked recessive

Alpha-galact A def –> ceramide trihexoside buildup

TRIAD = episodic peripheral neuropathy + angiokeratomas + hypohidrosis

Renal and cardio problems later

Question 3

Metachromatic Leukodystrophy

Answer 3

Arylsulfatase A def –> cerebroside sulfate build up

Central and peripheral demyelination –> ataxia and dementia

Question 4

Krabbe

Answer 4

Galactocerebrosidase def –> galactocerebroside and psychosine buildup

Peripheral neuropathy, oligodendrocyte destruction, dev delay, optic atrophy, globoid cells

Question 5

Gaucher

Answer 5

MOST COMMON

beta glucosidase def –> glucocerebroside build up

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises

GAUCHER CELLS (lipid laden macrophages that look like crumpled tissue paper)

Question 6

Niemann-Pick

Answer 6

Sphingomyelinase def –> sphingomyelin buildup

Progressive neurodegeneration, HEPATOSPLEOMEGALY, foam cells, cherry red spots on macrophages

(“pick nose w/ sphinger”)

Question 7

Hurler Syndrome

Answer 7

alpha-L-iduronidase def –> heparan sulfate and dermatan sulfate

Dev delay, gargoylism, airway obstruction, corneal clouding (unlike Hunter), hepatosplenomegaly

Question 8

Hunter Syndrome

Answer 8

Mild form of Hurler X linked rec

Iduronate sulfatase def –> heparan sulfate and dermatan sulfate

aggressive behavior but NO clouding (need to see as a hunter)