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First Aid STEP 1 - Biochemistry > Biochemistry - Metabolism 2 > Flashcards

Biochemistry - Metabolism 2 Flashcards

1
Q

What are the findings of Fabry disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

Peripheral neuropathy of hands/feet, angiokeratomas, CV and renal disease

alpha-galactosidase A (ceramide trihexoside accumulates)

XR

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2
Q

What are the findings of Gaucher disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

hepatosplenomegaly
pancytopenia
aseptic necrosis of femur
Gaucher cells

glucocerebrosidase (glucocerebroside accumulates)

AR

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3
Q

What is the most common lysosomal storage disease?

A

Gaucher disease

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4
Q

What are the findings of Niemann-Pick disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

progressive neurodegeneration, hepatosplenomegaly, “cherry red” spot on macula, foam cells (lipid-laden macrophages)

sphingomyelinase (sphingomyelin accumulates)

AR

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5
Q

What are the findings of Tay-Sachs disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

progressive neurodegeneration, developmental delay, “cherry red” spot on macula, lysosomes with onion skin, NO hepatosplenomegaly

hexosaminidase A (GM2 ganglioside accumulates)

AR

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6
Q

What are the findings of Krabbe disease?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

galactocerebrosidase (galactocerebroside, psychosine accumulate)

AR

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7
Q

What are the findings of Metachromatic Leukodystrophy?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

central and peripheral demyelination with ataxia, dementia

arylsulfatase A (cerebroside sulfate accumulates)

AR

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8
Q

What are the findings of Hurler Syndrome?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

alpha-L-iuronidase (heparan sulfate, dermatan sulfate accumulate)

AR

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9
Q

What are the findings of Hunter Syndrome?
What is the enzyme deficiency?
What is the form of inheritance of the disease?

A

Mild Hurler + aggressive behavior, NO corneal clouding

Iduronate sulfatase (heparan sulfate, dermatan sulfate accumulate)

XR

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10
Q

What shuttle in the mitochondrial membrane is used in the synthesis fatty acids?

A

citrate

SYtrate = SYnthesis

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11
Q

What shuttle in the mitochondrial membrane is used in the degradation of fatty acids?

A

carnitine

CARnitine = CARnnage of fatty acids

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12
Q

An inability to transport LCFAs into the mitochondria resulting in toxic accumulation describes which disease?

A

Carnitine deficiency

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13
Q

What does the breath of a starving individual or alcoholic individual smell like?

A

fruit odor (like acetone)

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14
Q

Between meals what is your body’s main source of energy?

A

glucose from hepatic glycogenolysis

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15
Q

Starvation after day 3 results in using what fuel source in your body?

A

adipose stores

after these adipose stores are depleted –> vital protein degradation –> organ failure and death

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16
Q

What is the rate-limiting step in cholesterol synthesis?

A

HMG-CoA reductase which converts HMG-CoA to mevalonate

17
Q

What induces HMG-CoA reductase?

A

insulin

18
Q

What medication competitively and reversibly inhibits HMG-CoA reductase?

A

Statins

19
Q

What enzyme catalyzes esterification of cholesterol?

A

LCAT

20
Q

What protein mediates transfer of cholesterol esters to other lipoprotein particles?

A

cholesterol ester transfer protein (CETP)

21
Q

What apolipoprotein is necessary for LPL uptake?

A

C-II

22
Q

What apolipoprotein mediates chylomicron secretion?

A

B-48

23
Q

What apolipoprotein binds LDL receptor?

A

B-100

24
Q

Cholesterol molecules that are synthesized in the liver are marked with which apolipoprotein?

A

B-100

25
Q

LDL transports cholesterol from in which direction…

liver to tissues OR periphery to liver

A

liver to tissues

“LDL is Lousy”

26
Q

HDL transports cholesterol from in which direction…

liver to tissues OR periphery to liver

A

periphery to liver

“HDL is Healthy!”

27
Q

What is the pathophysiology of I-hyperchylomicronemia?

A

lipoprotein lipase deficiency or altered apolipoprotein C-II

28
Q

What are findings seen in I-hyperchylomicronemia?

A

pancreatitis
hepatosplenomegaly
eruptive/pruritic xanthomas

29
Q

What is the inheritance pattern of I-hyperchylomicronemia?

A

AR

30
Q

What is the pathophysiology of IIa-familial hypercholesterolemia?

A

Absent or defective LDL receptors

31
Q

What are findings seen in IIa-familial hypercholesterolemia?

A

accelerated atherosclerosis
tendon (Achilles) xanthomas
corneal arcus

32
Q

What is the inheritance pattern in IIa-familial hypercholesterolemia?

A

AD

33
Q

What is the pathophysiology of IV-hypertriglyceridemia?

A

hepatic overproduction on VLDl

34
Q

What is the finding seen in IV-hypertriglyceridemia?

A

pancreatitis

35
Q

What is the inheritance pattern in IV-hypertriglyceridemia?

A

AD

First Aid STEP 1 - Biochemistry (8 decks)

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