Lysosomal Storage Diseases Fabrys Disease What kind Sphingolipidosis
Lysosomal Storage Diseases
Fabry’s Disease What kind? Sphingolipidosis • Symptoms? • Peripheral neuropathy, CV/renal disease, angiokeratomas • Alpha galactosidase A • Ceramide trihexoside • X-linked recessive (i. e. maternal uncle died from renal disease) • Enzyme Def? • What accumulates? • Inheritance Pattern?
Niemann-Pick Disease What kind? Sphingolipidosis • Symptoms? • HSM, Cherry red macular spot, progressive neurodegen, foam cells • Enzyme Def? • What accumulates? • Inheritance Pattern? • Sphingomyelinase • Sphingomyelin • Autosomal recessive, increased incidence in Ashkenazi Jews
Metachromatic Leukodystrophy What kind? Sphingolipidosis • Symptoms? • Central and peripheral demyelination with ataxia and dementia. • Enzyme Def? • What accumulates? • Inheritance Pattern? • Arylsulfatase A • Cerebroside Sulfate • Autosomal recessive
Hunter Syndrome What kind? Mucopolysaccharidosis • Symptoms? • NO Corneal clouding, developmental delay, gargoylism, airway obstr, HSM, aggressive behavior • Enzyme Def? • What accumulates? • Inheritance Pattern? • Iduronate Sulfatase • Heparan and dermatan sulfate • X-linked recessive
Krabbe’s Disease What kind? Sphingolipidosis • Symptoms? • peripheral neuropathy, developmental delay, optic atrophy, globoid cells • Enzyme Def? • What accumulates? • Inheritance Pattern? • galactocerebrosidase • Galactocerebroside • Autosomal recessive
Tay-Sachs Disease What kind? Sphingolipidosis • Symptoms? • Progressive neurodegen, developmental delay, cherry red spot, onion skinning on lysosomes • Enzyme Def? • What accumulates? • Inheritance Pattern? • Hexosaminidase A • GM 2 Ganglioside • Autosomal recessive, increased incidence in Ashkenazi Jews
Hurler Syndrome What kind? Mucopolysaccharidosis • Symptoms? • Corneal clouding, developmental delay, gargoylism, airway obstr, HSM • Enzyme Def? • What accumulates? • Inheritance Pattern? • Alpha L iduronidase • Heparan and dermatan sulfate • Autosomal recessive
Gaucher’s Disease (most common!) What kind? Sphingolipidosis • Symptoms? • HSM, aseptic femur necrosis, Gaucher cells (look like crumpled macros) • Enzyme Def? • What accumulates? • Inheritance Pattern? • Beta-glucocerebrosidase • Glucocerebroside • Autosomal recessive, increased incidence in Ashkenazi Jews
- Slides: 9