1. Lysosomal Storage Diseases

2. Fabry’s Disease What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis Peripheral neuropathy, CV/renal disease, angiokeratomas Alpha galactosidase A Ceramide trihexoside X-linked recessive (i.e. maternal uncle died from renal disease)

3. Niemann-Pick Disease What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis HSM, Cherry red macular spot, progressive neurodegen, foam cells Sphingomyelinase Sphingomyelin Autosomal recessive, increased incidence in Ashkenazi Jews

4. Metachromatic Leukodystrophy What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis Central and peripheral demyelination with ataxia and dementia. Arylsulfatase A Cerebroside Sulfate Autosomal recessive

5. Hunter Syndrome What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Mucopolysaccharidosis NO Corneal clouding, developmental delay, gargoylism, airway obstr, HSM, aggressive behavior Iduronate Sulfatase Heparan and dermatan sulfate X-linked recessive

6. Krabbe’s Disease What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis peripheral neuropathy, developmental delay, optic atrophy, globoid cells galactocerebrosidase Galactocerebroside Autosomal recessive

7. Tay-Sachs Disease What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis Progressive neurodegen, developmental delay, cherry red spot, onion skinning on lysosomes Hexosaminidase A GM2 Ganglioside Autosomal recessive, increased incidence in Ashkenazi Jews

8. Hurler Syndrome What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Mucopolysaccharidosis Corneal clouding, developmental delay, gargoylism, airway obstr, HSM Alpha L iduronidase Heparan and dermatan sulfate Autosomal recessive

9. Gaucher’s Disease (most common!) What kind? Symptoms? Enzyme Def? What accumulates? Inheritance Pattern? Sphingolipidosis HSM, aseptic femur necrosis, Gaucher cells (look like crumpled macros) Beta-glucocerebrosidase Glucocerebroside Autosomal recessive, increased incidence in Ashkenazi Jews