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Lysosomal Storage Diseases

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

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Lysosomal Storage Diseases

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  1. Lysosomal Storage Diseases

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

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

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

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

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

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

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

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

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