Lysosomal Storage Diseases

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)

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

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

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

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

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

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

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