Lipid Mobilization and Catabolism Flashcards
1
Q
Fabry symptoms
A
- 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)
2
Q
What accumulates in Fabry
A
Ceramide trihexoside
3
Q
Fabry Disease is due to a mutation of what ezyme
A
Lysosomal a-galactosidase
4
Q
Tay-Sachs symptoms
A
- Cherry red spots in macula
- Blindness
- Psychomotor retardation
- Death under 2 years
- Startle reflex
5
Q
What hydrolyzes TG
A
Hormone-sensitive triacylglycerol lipase
6
Q
Niemann-Pick symptoms
A
- Hepatosplenomegaly
- Microcephaly with sever mental retardation
- Zebra bodies in inclusions
- Foamy macrophages
7
Q
Gaucher lysosomal enzyme missing
A
Glucocerebrosidase
8
Q
Niemann-Pick accumulates
A
Sphinomyelin
9
Q
Fabry disease genetics
A
X-linked recessive
10
Q
What is the primary etiology of Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
A
Hepatic
11
Q
Hormone sensitive lipase converts
A
TGL to:
Glycerol
Fatty acids
12
Q
Propionyl-CoA carboxylase converts
A
Propionyl-CoA to Methylmalonyl-CoA
13
Q
Tay-Sachs accumulates
A
Ganglioside GM2
14
Q
Tay-Sache lysosomal enzyme missing
A
Hexosaminidase A
15
Q
Methylmalonyl-CoA mutase requires
A
B12
