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First Aid 2014 > Biochemistry > Flashcards

Biochemistry Flashcards

(59 cards)

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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

Study These Flashcards
A

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

25
Fatty acid oxidation | rate determining enzyme
Carnitine acyltransferase I | - = malonyl-CoA
26
Ketogenesis | rate determining enzyme
HMG-CoA synthase
27
Cholesterol synthesis | rate determining enzyme
HMG-CoA reductase + = insulin, thyroxine - = glucagon, cholesterol
28
Pyruvate dehydrogenase complex deficiency
pyruvate buildup --> increased lactate & alanine | Tx: ketogenic nutrients (acetyl-CoA bypass PDH complex)
29
Essential fructosuria
Def: Fructokinase | increased fructose in blood/urine
30
Fructose intolerance
Def: Aldolase B fructose-1-P accumulates & decrease free P --> inhibit glycogenolysis/gluconeogenesis --> hypoglycemia after fructose/sucrose ingestion P/w: jaundice, cirrhosis, vomiting
31
Galactokinase deficiency
Def: Galactokinase some galactitol accumulation P/w: infantile cataracts
32
Classic galactosemia
Def: Galactose-1-P urisyltransferase Def galactose-1-P & galactitol accumulation P/w: FTT, jaundice, hepatomegaly, infantile cataracts, MR
33
Essential AAs
Glucogenic: Met, Val, His Glucogenic/Ketogenic: Ile, Phe, Thr, Trp Ketogenic: Leu, Lys
34
N-acetylglutamate deficiency
hyperammonemia | identical presentation as CPS-I deficiency
35
Ornithine transcarbamylase deficiency
X-linked recessive hyperammonemia, increased orotic acid, decreased BUN NO megaloblastic anemia (vs orotic acidemia)
36
Phenylketonuria
Def: Phenylalanine hydroxylase OR tetrahydrobiopterin cofactor P/w: mental/growth retardation, seizures, fair skin, eczema, musty/mousy body odor
37
Alkaptonuria
Def: Homogentisate oxidase Def homogentisic acid accumulation (pathway from tyr to fumarate) P/w: dark CT, brown sclerae, black urine, arthralgia
38
Homocystinuria
- 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
Cystinuria
Def: renal PCR/intestinal AA transporter | Cysteine/Ornithine/Lysine/Arginine excess in urine
40
Maple syrup urine disease
Def: alpha-ketoacid dehydrogenase (B1) | increased alpha-ketoacid in blood
41
Von Gierke disease (type I)
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
Pompe disease (type II)
Def: Lysosomal alpha-1,4-glucosidase (acid maltase) (HEART) | P/w: cardiomyopathy (d/t glycogen accumulation in lysosome)
43
Cori disease (type III)
Def: Debranching enzyme (alpha-1,6-glucosidase) (LIVER) | P/w: mild disease
44
McArdle disease (type V)
Def: Skeletal muscle glycogen phosphorylase (myophosphorylase) P/w: increased glycogen in muscle --> painful muscle cramps/myoglobinuria
45
Fabry disease
Def: alpha-galactosidase A (X-linked recessive) Subs: Ceramide trihexoside P/w: peripheral neuropathy, angiokeratomas, CV/renal disease
46
Gaucher disease
Def: Glucocerebrosidase (beta-glucosidase) MC Subs: Glucocerebroside P/w: hepatosplenomegaly, pancytopenia, lipid-laden macrophages, NO neuro involvement
47
Niemann-Pick disease
Def: Sphingomyelinase Subs: Sphingomyelin P/w: neurodegeneration, hepatosplenomegaly, cherry-red macula spot, lipid-laden macrophages
48
Tay-Sachs disease
Def: Hexosaminidase A Subs: GM2 ganglioside P/w: neurodegeneration, cherry-red macula spot, onion skin lysosomes
49
Krabbe disease
Def: Galactocerebrosidase Subs: Galactocerebroside, psychosine P/w: peripheral neuropathy, dev't delay, optic atrophy, globoid cell
50
Metachromatic leukodystrophy
Def: Arylsulfatase A Subs: Cerebroside sulfate P/w: central/peripheral demyelination w/ ataxia, dementia
51
Hurler Syndrome
Def: alpha-L-iduronidase Subs: heparan sulfate, dermatan sulfate P/w: dev't delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
52
Hunter Syndrome
Def: Iduronate sulfatase (X-linked recessive) Subs: heparan sulfate, dermatan sulfate P/w: mild Hurler + aggressive behavior, NO corneal clouding
53
Carnitine deficiency
No LCFA transport into mitochondria --> weakness, hypotonia, hypoketotic hypoglycemia
54
Acyl-CoA dehydrogenase deficiency
no acetyl-CoA from oxidation of FAs --> decreased pyruvate carboxylase activity (acetyl-CoA = + regulator) --> decreased fasting glucose
55
Apoplipoprotein E
mediates remnant uptake
56
Apoplipoprotein A-I
activates LCAT --> C to CE --> drives CE into HDL
57
Apoplipoprotein C-II
LPL cofactor
58
Apolipoprotein B-48
mediates CM secretion (intestinal cells)
59
Apolipoprotein B-100
binds LDL R --> mediates uptake of VLDL/IDL/LDL

First Aid 2014 (7 decks)

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