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First Aid 2014 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Vitamin A

Retinol

A

Fxn: antioxidant, visual pigment (retinal)
Def: night blindness, dry/scaly skin, alopecia, immune sup
Excess: arthralgia, scaly skin, alopecia, increased intracranial P, teratogenic (cleft palate/cardiac abn)

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2
Q

Vitamin B1

Thiamine

A

Fxn: TPP in dehydrogenase rxns
Def: impaired glucose breakdown –> ATP depletion in highly aerobic tissues (brain/heart)
Wernicke-Korsakoff & Beriberi

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3
Q

Vitamin B2

Riboflavin

A

Fxn: FAD/FMN in redox rxns, each generate 2 ATPs
Def: cheilosis, corneal vascularization

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4
Q

Vitamin B3

Niacin

A

Fxn: NAD/NADP in redox rxns, each generate 3 ATPs; syn w/ Trp & requires B2 & B6
Def: Pellagra (diarrhea, dementia, dermatitis)
Excess: flushing (via PG), hyperglycemia, hyperuricemia

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5
Q

Vitamin B5

Pantothenate

A

Fxn: CoA & fatty acid synthase component
Def: dermatitis, enteritis, alopecia, adrenal insuff

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6
Q 
Vitamin B6
(Pyridoxine)
A

Fxn: PLP in transamination/decarboxylation rxns; in syn of cystathonine/heme/niacin/histamine/NTs
Def: convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia

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7
Q

Vitamin B7

Biotin

A

Fxn: carboxylation cofactor
Def: w/ raw egg whites or abx –> dermatitis, alopecia, enteritis

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8
Q

Vitamin B9

Folic acid

A

Fxn: converted to THF –> methylation rxns
Def: megaloblastic anemia/hypersegmented PMNs, glossitis; increased homocysteine
Cause: phenytoin/sulfonamides/MTX

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9
Q

Vitamin B12

Cobalamin

A

Rxn: homocysteine methyltransferase & methylmalonyl-CoA mutase cofactor
Def: megaloblastic anemia/hypersegmented PMNs; parasthesias/subacute combined degeneration; increased homocysteine & MMA

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10
Q

Vitamin C

ascorbic acid

A

Fxn: facilitates Fe abs (via reduction), collagen hydroxylation, DA hydroxylation –> NE
Def: swollen gums/bruising/hemarthrosis/anemia/poor wounf healing
Excess: N/V, diarrhea, CaOxalate kidney stone

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11
Q

Vitamin D

A

Def: rickets (child, deformed), osteomalacia (adults, weak), tetany
Excesss: appetite loss, stupor

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12
Q

Vitamin E

A

Fxn: protect membranes from FR damage & enhance warfarin anticoag effects
Def: hemolytic anemia, acanthocytosis, neuro sx’s like B12 def but w/o megaloblastic anemia/hypersegmented PMNs

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13
Q

Vitamin K

A

Synthesize by intestinal flora

Def: in neonatal hemorrhage (can’t syn vit K in colon), or prolonged abx use

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14
Q

Zinc

A

Def: delayed wound healing, hypogonadism, decreased adult hair, dysgeusia/anosmia

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15
Q

Glycolysis

rate determining enzyme

A

Phosphofructokinase-1 (PFK-1)
+ = AMP, F2,6BP
- = ATP, citrate

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16
Q

Gluconeogenesis

rate determining enzyme

A

Fructose-1,6-bisphosphonate
+ = ATP, acetyl-CoA
- = AMP, F2,6BP

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17
Q

TCA cycle

rate determining enzyme

A

Isocitrate dehydrogenase
+ = ADP
- = ATP, NADH

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18
Q

Glycogenesis

rate determining enzyme

A

Glycogen synthase
+ = G6P, insulin, cortisol
- = Epi, glucagon

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19
Q

Glycogenolysis

rate determining enzyme

A

Glycogen phosphorylase
+ = Epi, glucagon, AMP
- = G6P, insulin, ATP

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20
Q

HMP shunt

rate determining enzyme

A

G6PD
+ = NADP+
- = NADPH

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21
Q

De novo pyrimidine synthesis

rate determining enzyme

A

Carbamoyl phosphate synthase II

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22
Q

De novo purine synthesis

rate determining enzyme

A

Glutamine-phosphoribosylpyrophosphate (PRPP) amidotransferase
- = AMP, IMP, GMP

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23
Q

Urea cycle

rate determining enzyme

A

Carbamoyl phosphate synthase I

+ = N-acetylglutamate (cofactor)

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24
Q

Fatty acid synthesis

rate determining enzyme

A

Acetyl-CoA carboxylase (ACC)
+ = insulin, citrate
- = glucagon, palmitoyl-CoA

25
Q

Fatty acid oxidation

rate determining enzyme

A

Carnitine acyltransferase I

- = malonyl-CoA

26
Q

Ketogenesis

rate determining enzyme

A

HMG-CoA synthase

27
Q

Cholesterol synthesis

rate determining enzyme

A

HMG-CoA reductase
+ = insulin, thyroxine
- = glucagon, cholesterol

28
Q

Pyruvate dehydrogenase complex deficiency

A

pyruvate buildup –> increased lactate & alanine

Tx: ketogenic nutrients (acetyl-CoA bypass PDH complex)

29
Q

Essential fructosuria

A

Def: Fructokinase

increased fructose in blood/urine

30
Q

Fructose intolerance

A

Def: Aldolase B
fructose-1-P accumulates & decrease free P –> inhibit glycogenolysis/gluconeogenesis –> hypoglycemia after fructose/sucrose ingestion
P/w: jaundice, cirrhosis, vomiting

31
Q

Galactokinase deficiency

A

Def: Galactokinase
some galactitol accumulation
P/w: infantile cataracts

32
Q

Classic galactosemia

A

Def: Galactose-1-P urisyltransferase Def
galactose-1-P & galactitol accumulation
P/w: FTT, jaundice, hepatomegaly, infantile cataracts, MR

33
Q

Essential AAs

A

Glucogenic: Met, Val, His
Glucogenic/Ketogenic: Ile, Phe, Thr, Trp
Ketogenic: Leu, Lys

34
Q

N-acetylglutamate deficiency

A

hyperammonemia

identical presentation as CPS-I deficiency

35
Q

Ornithine transcarbamylase deficiency

A

X-linked recessive
hyperammonemia, increased orotic acid, decreased BUN
NO megaloblastic anemia (vs orotic acidemia)

36
Q

Phenylketonuria

A

Def: Phenylalanine hydroxylase OR tetrahydrobiopterin cofactor
P/w: mental/growth retardation, seizures, fair skin, eczema, musty/mousy body odor

37
Q

Alkaptonuria

A

Def: Homogentisate oxidase Def
homogentisic acid accumulation (pathway from tyr to fumarate)
P/w: dark CT, brown sclerae, black urine, arthralgia

38
Q

Homocystinuria

A
  • Cystathione synthase Def OR decreased affinity for B6 = increased homocysteine/methionine; decreased cysteine
  • Homocysteine methyltransferase Def = increased homocysteine/cysteine; decreased methionine
    P/w: MR, tall, kyphosis, lens down/in, thrombosis/atherosclerosis
39
Q

Cystinuria

A

Def: renal PCR/intestinal AA transporter

Cysteine/Ornithine/Lysine/Arginine excess in urine

40
Q

Maple syrup urine disease

A

Def: alpha-ketoacid dehydrogenase (B1)

increased alpha-ketoacid in blood

41
Q

Von Gierke disease (type I)

A

Def: Glucose-6-phosphatase (LIVER)
P/w: increased glycogen in liver (hepatomegaly), severe fasting hypoglycemia, increased blood lactate (d/t glucose not able to leave liver to other cells)

42
Q

Pompe disease (type II)

A

Def: Lysosomal alpha-1,4-glucosidase (acid maltase) (HEART)

P/w: cardiomyopathy (d/t glycogen accumulation in lysosome)

43
Q

Cori disease (type III)

A

Def: Debranching enzyme (alpha-1,6-glucosidase) (LIVER)

P/w: mild disease

44
Q

McArdle disease (type V)

A

Def: Skeletal muscle glycogen phosphorylase (myophosphorylase)
P/w: increased glycogen in muscle –> painful muscle cramps/myoglobinuria

45
Q

Fabry disease

A

Def: alpha-galactosidase A (X-linked recessive)
Subs: Ceramide trihexoside
P/w: peripheral neuropathy, angiokeratomas, CV/renal disease

46
Q

Gaucher disease

A

Def: Glucocerebrosidase (beta-glucosidase) MC
Subs: Glucocerebroside
P/w: hepatosplenomegaly, pancytopenia, lipid-laden macrophages, NO neuro involvement

47
Q

Niemann-Pick disease

A

Def: Sphingomyelinase
Subs: Sphingomyelin
P/w: neurodegeneration, hepatosplenomegaly, cherry-red macula spot, lipid-laden macrophages

48
Q

Tay-Sachs disease

A

Def: Hexosaminidase A
Subs: GM2 ganglioside
P/w: neurodegeneration, cherry-red macula spot, onion skin lysosomes

49
Q

Krabbe disease

A

Def: Galactocerebrosidase
Subs: Galactocerebroside, psychosine
P/w: peripheral neuropathy, dev’t delay, optic atrophy, globoid cell

50
Q

Metachromatic leukodystrophy

A

Def: Arylsulfatase A
Subs: Cerebroside sulfate
P/w: central/peripheral demyelination w/ ataxia, dementia

51
Q

Hurler Syndrome

A

Def: alpha-L-iduronidase
Subs: heparan sulfate, dermatan sulfate
P/w: dev’t delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

52
Q

Hunter Syndrome

A

Def: Iduronate sulfatase (X-linked recessive)
Subs: heparan sulfate, dermatan sulfate
P/w: mild Hurler + aggressive behavior, NO corneal clouding

53
Q

Carnitine deficiency

A

No LCFA transport into mitochondria –> weakness, hypotonia, hypoketotic hypoglycemia

54
Q

Acyl-CoA dehydrogenase deficiency

A

no acetyl-CoA from oxidation of FAs –> decreased pyruvate carboxylase activity (acetyl-CoA = + regulator) –> decreased fasting glucose

55
Q

Apoplipoprotein E

A

mediates remnant uptake

56
Q

Apoplipoprotein A-I

A

activates LCAT –> C to CE –> drives CE into HDL

57
Q

Apoplipoprotein C-II

A

LPL cofactor

58
Q

Apolipoprotein B-48

A

mediates CM secretion (intestinal cells)

59
Q

Apolipoprotein B-100

A

binds LDL R –> mediates uptake of VLDL/IDL/LDL

First Aid 2014 (7 decks)

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