Lysosomal Storage Diseases

Front 1

Fabry's disease

Back 1

Deficient - α-galactosidase A

Accumulation - ceramide trihexoside

X-linked recessive

Hint 1

Peripheral neuropathy (hands/feet)

Angiokeratomas

CV/renal disease

Front 2

Gaucher's disease

Back 2

Deficient - β-glucocerebrosidase

Accumulation - glucocerebroside

Autosomal recessive

Hint 2

Hepatosplenomegaly

Aseptic necrosis of femur, bone crises

Gaucher's cells - macrophages with "crumped tissue paper" appearance

Bonus - most common lysosomal storage disorder!

Front 3

Hunter's syndrome

Back 3

Deficient - iduronate sulfatase

Accumulation - heparan sulfate, dermatan sulfate

X-linked recessive

Hint 3

Mild Hurler's symptoms (developmental delay, gargoylism, airway obstruction, hepatosplenomegaly)

With aggression

W/o corneal clouding

Front 4

Krabbe's disease

Back 4

Deficiency - galactocerebrosidase

Accumulation - galactocerebroside

Autosomal recessive

Hint 4

Peripheral neuropathy

Development delays

Optic atrophy

Globoid cells

Front 5

Niemann-Pick

Back 5

Deficiency - sphingomyelinase

Accumulation - sphingomyelin

Autosomal recessive

Remember - "No man picks" his nose with his "sphinger"

Hint 5

Progressive neurodegeneration

Cherry-red spot on macula

Hepatosplenomegaly

Foam cells

Front 6

Hurler's syndrome

Back 6

Deficient - α-L-iduronidase

Accumulation - heparan sulfate, dermatan sulfate

Autosomal recessive

Hint 6

Development delays

Corneal clouding

Gargoylism

Airway obstruction

Hepatosplenomegaly

Front 7

Tay-Sachs disease

Back 7

Deficient - hexosaminidase A
(imagine "Tay-Sachs" spelled "Tay-SaX")

Accumulation - GM₂

Autosomal recessive

Hint 7

Progressive neurodegeneration

Cherry-red spot on macula

Development delay

Lysosomes with "onion skin"

NO hepatosplenomegaly (unlike Niemann-Pick)

Front 8

Metachromatic leukodystrophy

Back 8

Deficient - arylsulfatase A

Accumulation - cerebroside sulfate

Autosomal recessive

Hint 8

Central & peripheral demyelination

Ataxia

Dementia