MCP - Goodman - Complex Lipids Flashcards
What disease results in: cherry red macula blindness seizures fatal neurodegeneration
Tay-Sachs Disease
Accumulation of gangliosides
Deficiency of activator protein
Accumulation of gangliosides (GM1) and keratin sulfate, and a deficiency in beta-galactosidase is known as:
Gangliosidosis Neurologic deterioration cherry red macula skeletal deformities hepatosplenomegaly
What is Gaucher disease?
Deficiency in beta-glucosidase Accumulation of glucocerebrosides most common lysosomal storage disease hepatosplenomegaly osteoporosis of long bones
Sandhoff disease results from accumulation of what substrate?
substrate: globosides
deficiency in beta-hexoaminidase
same symptoms as Tay-Sachs, but with visceral involvement as well
Metachromatic Leukodystrophy results from deficiency of what enzyme?
Deficiency of glucosidase or activator protein Accumulation of sulfatides cognitive deterioration demyelination progressive paralysis
Accumulation of galactocerebrosides that results in mental and motor deterioration, blindness and deafness, and near total demyelination is known as:
Krabbe Disease aka Globoid Cell Leukodystrophy
Deficiency in galactocerebrosidase
What is Farber Disease?
Accumulation of ceramide due to deficiency in ceraminidase painful and progressive joint deformity subcutaneous nodules of lipid cells hoarse cry granulomas in tissues
Deficiency in sphyingomyelinase is known as:
Neimann-Pick Disease Accumulation of sphingomyelin hepatosplenomegaly neurogegenerative cherry-red macula
What X-linked disease results in the accumulation of globosides?
Fabry Disease Deficiency in alpha-galactosidase skin rash kidney and heart failure burning in lower extremities