+
Related Flashcards
Related Topics
Cards In This Set
| Front | Back |
|
Lysosomal Storage Diseases
|
Look at chart - pg. 111 FA
|
|
Peripheral nueropathy of hands and feet, reddish/purple rash, cataracts, death due to cardiovascular/renal disease
|
Disease: Fabrys Disease
Deficient Enzyme: alpha-galactosidase Accumulated Substrate: ceramide trihexoside Inheritance: XR "Fables, galaxsies, hexes" |
 Hepatosplenomegaly, aseptic necrosis of femur, bone crisis Cells that look like: |
Disease: Gauchers Disease (most common)
Deficient Enzyme: Beta glucocerebrosidase Accumulated Substrate: Glucocerebroside Inheritance: AR "Mexicans are smart" Macrophage accumulation in the liver, spleen, bone marrow, compatable with life |
 Progressive neurodegeneration (mental retardation), hepatosplenomegaly, cherry red spot on macula, Fatal early in life |
Disease: Neimman Pick
Deficient Enzyme: Sphingomyelinase Accumulated Substrate: Sphingomyelin Inheritance: AR |
 Peripheral neuropathy - abnormal myelin, developmental delay - psychomotor retardation, optic atrophy, globoid cells in the white matter of the brain |
Disease: Krabbe Disease
Deficient Enzyme: B galactocerebrosidase Accumulated Substrate: Galactocerebroside Inheritance: AR |
|
Central and peripheral demyelination with ataxia, dementia, urine arylsulfatase decreased, death within first decade
|
Disease: Metachromatic leukodystrophy
Deficient Enzyme: Arylsulfatase A Accumulated Substrate: Cerebroside Sulfate Inheritance:AR |
|
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
|
Disease: Hurlers Disease
Deficient Enzyme: alpha-L iduronidase Accumulated Substrate: Heparin Sulfate, Dermatan Sulfate Inheritance:AR |
|
Mild Hulers, + aggressive behavior, NO cornal clouding
|
Disease: Hunters Syndrome
Deficient Enzyme: Iduronadate Sulfatase Accumulated Substrate: Heparan Sulfate, Dermatan Sulfate Inheritance: XR |
|
Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, No hepatosplenomegaly, muscle weakness, flacidity, occurs primarily in Ashkanazi Jews; fatal at an early age
|
Disease: Tay Sachs Disease
Deficient Enzyme: Hexosaminadase Accumulated Substrate: GM2 Gangliosides Inheritence: AR |
|
Ashkanazi Jews
|
Tay Sachs, Niemman Pick, Gauchers Disease
|
