Lysosomal Storage diseases

Question 1

Fabry Disease

Answer 1

alpha-galactosidase A

Peripheral neuropathy of hands/feet
Angiokeratomas
Cardiovascular/renal disease

Accumulated Ceramide trihexoside
XR

Question 2

Gaucher Disease

Answer 2

Most common

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femur, bone crises

Gaucher cells: lipid laden macrophages Crumpled tissue paper

Treatment: Recombinant Glucocerebrosidase

Enzyme: Glucocerebrosidase

Buildup: Glucocerebroside

AR

Question 3

Niemann-Pick Disease

Answer 3

Progressie neurodengeration
Hepatosplenomegaly
Foam cells (lipid laden macrophages)
Cherry Red Spot on Macula

Deficient: Sphingomyelinase

Build: Sphingomyelin

AR

Question 4

Tay Sachs disease

Answer 4

Progressive neurodegeneration
Developmental delay
Cherry Red spot macula
Lysosomes with onion skin
No Hepatosplenomegaly

Enzyme: Hexosaminidase A

Buildup: GM2 ganglioside

AR

Question 5

Krabbe disease

Answer 5

Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells

Enzyme: Galactocerebrosidase

Buildup: Galactocerebroside, psychosine

AR

Question 6

Metachromatic leukodystophry

Answer 6

Central and peripheral demyelination with ataxia
Dementia

Enzyme: Arylsulfatase A

Buildup: Cerebroside sulfate

AR

Question 7

Hurler Syndrome

Answer 7

Developmental Delay
Gargolyism
Airway obstruction
Corneal clouding
Hepatosplenomegaly

Enzyme: alpha-L-iduronidase

Buildup: Heparan sulfate, dermatan sulfate

AR

Question 8

Hunter Syndrome

Answer 8

Mild hurler + aggressive behavior
No corneal clouding

Enzyme: Iduronate sulfatase

Heparan sulfate, dermatan sulfate

XR