Lysosomal Storage Diseases

Front 1

Fabry's disease

Back 1

- peripheral neuropathy of hands/feet, angiokeratomas, CV and renal disease
- alpha-galactosidase A deficiency leads to ceramide trihexoside accumulation
- X-linked recessive

Front 2

Gaucher's disease

Back 2

- hepatosplenomegaly, asceptic necrosis of femur, bone crises, Gaucher's cells (macrophages)
- beta-glucocerebrosidase deficiency
- accumulation of glucocerebroside
- autosomal recessive

Front 3

Niemann-Pick disease

Back 3

- progressive neurodegeneration, hepatosplenomegaly, cherry-red spot (on macula)
- sphingomyelinase deficiency
- sphingomyelin accumulation
- autosomal recessive

Front 4

Tay-Sachs disease

Back 4

- progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
- hexosaminidase A deficiency
- GM2 ganglioside accumulation
- autosomal recessive

Front 5

Krabbe's disease

Back 5

- peripheral neuropathy, developmental delay, optic atrophy
- beta-galactosidase deficiency
- galactocerebroside accumulation
- autosomal recessive

Front 6

Metachromatic leukodystrophy

Back 6

- central and peripheral demyelination with ataxia and dementia
- arylsulfatase A deficiency
- cerebroside sulfate accumulation
- autosomal recessive

Front 7

Hurler's syndrome

Back 7

- developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
- alpha-L-iduronidase deficiency
- heparan sulfate, dermatan sulfate accumulations
- autosomal recessive

Front 8

Hunter's syndrome

Back 8

- mild Hurler's, plus aggressive behaviour, no corneal clouding
- iduronate sulfatase deficiency
- heparan sulfate, dermatan sulfate accumulation
- X-linked recessive