Biochemistry - Metabolism 2 Flashcards
(35 cards)
What are the findings of Fabry disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
Peripheral neuropathy of hands/feet, angiokeratomas, CV and renal disease
alpha-galactosidase A (ceramide trihexoside accumulates)
XR
What are the findings of Gaucher disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
hepatosplenomegaly
pancytopenia
aseptic necrosis of femur
Gaucher cells
glucocerebrosidase (glucocerebroside accumulates)
AR
What is the most common lysosomal storage disease?
Gaucher disease
What are the findings of Niemann-Pick disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
progressive neurodegeneration, hepatosplenomegaly, “cherry red” spot on macula, foam cells (lipid-laden macrophages)
sphingomyelinase (sphingomyelin accumulates)
AR
What are the findings of Tay-Sachs disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
progressive neurodegeneration, developmental delay, “cherry red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly
hexosaminidase A (GM2 ganglioside accumulates)
AR
What are the findings of Krabbe disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
galactocerebrosidase (galactocerebroside, psychosine accumulate)
AR
What are the findings of Metachromatic Leukodystrophy?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
central and peripheral demyelination with ataxia, dementia
arylsulfatase A (cerebroside sulfate accumulates)
AR
What are the findings of Hurler Syndrome?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
alpha-L-iuronidase (heparan sulfate, dermatan sulfate accumulate)
AR
What are the findings of Hunter Syndrome?
What is the enzyme deficiency?
What is the form of inheritance of the disease?
Mild Hurler + aggressive behavior, NO corneal clouding
Iduronate sulfatase (heparan sulfate, dermatan sulfate accumulate)
XR
What shuttle in the mitochondrial membrane is used in the synthesis fatty acids?
citrate
SYtrate = SYnthesis
What shuttle in the mitochondrial membrane is used in the degradation of fatty acids?
carnitine
CARnitine = CARnnage of fatty acids
An inability to transport LCFAs into the mitochondria resulting in toxic accumulation describes which disease?
Carnitine deficiency
What does the breath of a starving individual or alcoholic individual smell like?
fruit odor (like acetone)
Between meals what is your body’s main source of energy?
glucose from hepatic glycogenolysis
Starvation after day 3 results in using what fuel source in your body?
adipose stores
after these adipose stores are depleted –> vital protein degradation –> organ failure and death
What is the rate-limiting step in cholesterol synthesis?
HMG-CoA reductase which converts HMG-CoA to mevalonate
What induces HMG-CoA reductase?
insulin
What medication competitively and reversibly inhibits HMG-CoA reductase?
Statins
What enzyme catalyzes esterification of cholesterol?
LCAT
What protein mediates transfer of cholesterol esters to other lipoprotein particles?
cholesterol ester transfer protein (CETP)
What apolipoprotein is necessary for LPL uptake?
C-II
What apolipoprotein mediates chylomicron secretion?
B-48
What apolipoprotein binds LDL receptor?
B-100
Cholesterol molecules that are synthesized in the liver are marked with which apolipoprotein?
B-100
