Sphingolipid Metabolism
Terms
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- Sphingolipids backbone and head group
- instead of glycerol backbone it has spingosine backbone and instead of head group it has carbohydrate
- Sphingosine is formed from what amino acid
- serine
- What is the parent compound of sphingolipids
- ceramide
- What is the parent compound of Ecosinoids
- Arachadonic Acid
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Gaucher's disease
Lipid accumulation
Enzyme deficiency
Primary organ involvement -
Lipid accumulation: GLUCOCEREBROSIDE
Enzyme deficiency: GLUCOSYLCERAMIDE (B-D-GLUCOSIDASE)
Primary organ involvement: LIVER, SPLEEN, BRAIN -
Nieman-Pick
Lipid accumulation
Enzyme deficiency
Primary organ involvement -
Lipid accumulation:
SPHINGOMYLIN
Enzyme deficiency:
SPHINGOMYLINASE
Primary organ involvement:
BRAIN, LIVER, SPLEEN -
Fabry's
Lipid accumulation
Enzyme deficiency
Primary organ involvement -
Lipid accumulation:
CERAMIDE TRIHEXOSIDE
Enzyme deficiency:
ALPHA-BETA-GALACTOSIDASE
Primary organ involvement
KIDNEY -
Tay Sach's
Lipid accumulation
Enzyme deficiency
Primary organ involvement -
Lipid accumulation:
GANGLIOSIDE GM2
Enzyme deficiency:
B-D-HEXOSAMINIDASE A
Primary organ involvement: BRAIN - Describe Tay Sach's
-
Disfunction in enzyme B-D hexosaminidase A. Results in build up of gangliosides (GM2) and rapid and progressive neurodegeration. Results in blindness, cherry red macula, muscular weakness, seizures
Prevelant in eastern european jews.
Autosomal recessive. - Describe Gaucher's disease
-
Results from a build up of glucocerebrosides because of a faulty glucosylceramide enzyme. It is the most common lysosomal storage disease. Resutls in hepatomegly. Osteoperosis of long bones. Rare CNS involvement in juvenile and infantile forms.
Autosomal recessive.
Crumpled tissue paper appearance to cytoplasm in cells. - Describe Nieman Pick disease
-
Disfunction in spingomyelinase enzyme results in a build up of sphingomyelin. Results in hepatomegly and neurodegeneration.
Cells appear "foamy" with sphingomylin.
Autosomal recessive - Describe Fabry's disease
- Disfunction in alpha galactosidase enzyme results in build-up of ceramide trihexoside. Results in a reddish-purple skin rash. Kidney and heart failure and burning pain in the lower extremities. X-linked recessive.