Term
| what is the antigenic determinant for ABO blood types |
|
Definition
|
|
Term
| what is the core structure of a sphingolipid? |
|
Definition
| amino alcohol sphingosine |
|
|
Term
| the amino group on C2 bears what? |
|
Definition
| long chain FA in amide linkages |
|
|
Term
| what are FA AMIDE derivatives of sphingosine |
|
Definition
|
|
Term
| sphingolipids serve as precursors and backbone for what two structures? |
|
Definition
| sphingomyelin and glycosphingolipids |
|
|
Term
| name two acidic sphingolipids |
|
Definition
| sulfatide and gangliosides |
|
|
Term
| what synthesizes dihydrosphingosine? |
|
Definition
|
|
Term
| what are ceramides synthesized from? |
|
Definition
| dihydrosphingosine and long chain FA |
|
|
Term
| what is the structure of galactocerebroside? |
|
Definition
|
|
Term
| how are sulphogalactocerebrosides synthesized? |
|
Definition
| galactocerebroside + PAPS |
|
|
Term
| what is characterized by niemann pick disease? |
|
Definition
| liver and spleen enlargement, mental retardation |
|
|
Term
| what is the enzyme defiiciency of Niemann Pick disease? |
|
Definition
|
|
Term
| where is type A niemann pick disease prevalent? |
|
Definition
| first 6 months, CNS degeneration, spasticity |
|
|
Term
| type B Niemann Pick disease is prevalent where |
|
Definition
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|
Term
| gaucher disease is caused by a genetic deficiency in what |
|
Definition
|
|
Term
| what are symptoms of Gaucher's disease |
|
Definition
| liver and spleen enlargement, erosion of long bones and pelvis, retardation in infants. |
|
|
Term
| younger patients with gaucher's disease have what symptoms? |
|
Definition
| hepatosplenomegaly and blood cytopenias |
|
|
Term
| Older patients with gaucher's disease have a tendency for what symptoms |
|
Definition
|
|
Term
| how is gaucher's diagnosed? |
|
Definition
| measuring glucosidase in cells such as leukocytes or fibroblasts |
|
|
Term
| how is gaucher's treated? |
|
Definition
|
|
Term
| krabbe disease is an enzyme deficiency characterized by a deficiency in |
|
Definition
|
|
Term
| what is krabbe disease associated with |
|
Definition
| impairment in the growth and maintenance of myelin |
|
|
Term
| what is metachromatic leukodystrophy |
|
Definition
| lack of lysosomal sulphatidase causes large quantities of sulphogalactocerebroside accumulate in brain. |
|
|
Term
|
Definition
| glycosphingolipids that contain sialic acid |
|
|
Term
| these drugs are caused by a deficiency in beta galactosidase |
|
Definition
| Gangliosidosis and Krabbe's |
|
|
Term
| Tay Sach's disease is caused by an enzyme deficiency of |
|
Definition
|
|
Term
| what is the result of tay sachs |
|
Definition
| buildup of GM2 gangliosides in the lysosomes |
|
|
Term
| What is more severe form of Tay sachs |
|
Definition
|
|
Term
| Fabry Disease is an enzyme deficiency in what |
|
Definition
|
|
Term
| fabry disease causes an accumulation of what? |
|
Definition
|
|
Term
| how is fabry disease diagnosed? |
|
Definition
| peripheral leukocytes, DNA sequence of the coding region |
|
|
Term
| what are sphingolipidoses |
|
Definition
| when enzyme is deficient, substrate backs up and accumulates in the lysosomes |
|
|
Term
| which sphingolipid disease is X-chromosome linked? |
|
Definition
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|
Term
|
Definition
| toxin that stimulates secretion of Cl- and water in the gut w/diarrhea |
|
|
Term
| what is the function of the alpha unit of cholera toxin |
|
Definition
| ADP-ribosyltransferase that stimulates secretion of chloride ions |
|
|
Term
| what is the function of the beta subunit? |
|
Definition
| binding to gangliosides allowing entry of the alpha subunit in the cell |
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