Lipid Mobilization and Catabolism Flashcards
(23 cards)
Fabry symptoms
- Burning sensations in the hand
- Small, raised reddish-purple blemishes on the skin (angiokeratomas)
- Cloudiness of the cornea
- Impaired areterial circulation and increased risk of HT or stroke
- Enlargment of kidneys and heart
- Renal failure (cause of death)
What accumulates in Fabry
Ceramide trihexoside
Fabry Disease is due to a mutation of what ezyme
Lysosomal a-galactosidase
Tay-Sachs symptoms
- Cherry red spots in macula
- Blindness
- Psychomotor retardation
- Death under 2 years
- Startle reflex
What hydrolyzes TG
Hormone-sensitive triacylglycerol lipase
Niemann-Pick symptoms
- Hepatosplenomegaly
- Microcephaly with sever mental retardation
- Zebra bodies in inclusions
- Foamy macrophages
Gaucher lysosomal enzyme missing
Glucocerebrosidase
Niemann-Pick accumulates
Sphinomyelin
Fabry disease genetics
X-linked recessive
What is the primary etiology of Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
Hepatic
Hormone sensitive lipase converts
TGL to:
Glycerol
Fatty acids
Propionyl-CoA carboxylase converts
Propionyl-CoA to Methylmalonyl-CoA
Tay-Sachs accumulates
Ganglioside GM2
Tay-Sache lysosomal enzyme missing
Hexosaminidase A
Methylmalonyl-CoA mutase requires
B12
Niemann-Pick lysosomal enzyme missing
Sphingomyelinase
Propionyl-CoA carboxylase requires
Biotin
β-oxidation does what
Oxidizes fatty acids
Gaucher accumulates
Glucocerebroside
Gaucher symptoms
- Adult hepatosplenomegaly
- Erosion of bones
- Fractures
- Pancytopenia or thrombocytopenia
- Crumpled paper inclusions in macrophages
What inhibits Carnitine acyltransferase-1
malonyl-CoA
Methylmalonyl-CoA mutase converts
Methylmalonyl-CoA to Succinyl-CoA
How are long chain fatty acids transported into the mitochondrion?
By carnitine shuttle (CAT)
