Biochemistry First Aid Ii

Front 1

4 times of pyruvate metabolism (in and out)

what cofactors for eachone?

Back 1

pyruvate kinase ( PEP -> pyruvate)
pyruvate dehydrogenase (pyruvate -> acetyl coA)
pyruvate carboxylase (pyruvate -> OAA)
ALT (pyruvate <-> alanine)
LDH (lactate <--> pyruvate)

Hint 1

dehydrogenase: B1
carboxylase: biotin (only in liver)
kinase: **irreversible**

Front 2

Enzymes of Gluconeogensis

which ones are in the cytosole

Back 2

Pyruvate Carboxylase
PEPCK
Fructose 1,6-Bisphosphatase
Glucose-6-Phosphatase

Hint 2

all but Pyruvate Carboxylase are in the cytosol (OAA shuttled out of mitochondria)

Front 3

Cortisol raises blood glucose how?

Back 3

raises gene expression of gluconeogenic enzymes

Hint 3

raises gene expression of gluconeogenic enzymes!

Front 4

Describe HMP shunt and how it goes bad

Back 4

HMP regenerates NADPH for things like FA synth and glutathione reduction and steroid synth
both oxidative (non-reversible) and non-oxidative (reversible)

Hint 4

G6PDehydrogenase defficiency -> cant do shunt -> glutathione oxidized -> hemolytic anemia
Transketolases -> make ribose-5-P's (for NA synth)

Front 5

How do you get low transketolases?

What pathway does it muck up?

Back 5

They require thiamine (B1) and G6PD

Hint 5

You get hemolytic anemia (just like when you have G6PD deficiency)

Front 6

What is the most common glycolytic enzyme defects?

Back 6

pyruvate kinase (hemolytic anemia)
wayyy second is phosphoglucose isomerase

Front 7

What exacerbates G6PD deficiency?
why do people have it? histology?
What symptoms do you get
Inheritance pattern?

Back 7

anti-TB drugs, primaquine (anti-malarial), fava beans, sulfonamides
-> mutation confer malaria resistance

hemolytic anemia

Hint 7

X-linked Recessive!

Heinz bodies and Bite cells

Front 8

OKAY and bad fructose and galactose metabolism

Back 8

OKAY is first steps (galactokinase and fructokinase) -> jsut comes out in the urine

Hint 8

BAD is Aldolase B (fructose) -> binds up Pi

and Galactilol -> ocular damage, E coli infection!

Front 9

E coli infection

Enzyme name

Back 9

Galactose metabolism problem

Hint 9

Galactose-1-phosphate uridyltranferase

Front 10

UREA cycle

Back 10

help

Hint 10

Ordinarily Careless Crappers Are Also Frivolous About Urination

(ornithine, carbomoyl phosphate, citurilline, arginosuccinate, fumarate, arginine, urea)

Front 11

Hyperammonia w/ orotic aciduria

and without hyperammonia

TXs

Back 11

problem w/ urea cycle (Orinithine Transcarbamylase deficiency), XS carbomyl phosphate -> orotic acid

sodium benzoate and sodium phenylbutyrate (scavage nitrogen), low protein diet, give supplemental AAs

Hint 11

Orotic acid pHosphoribsaltranferase or orotidine5phosphate decarboxylase deficiency (precursor to NA's)-> starter of NA's is orotic acid -> give uridine

Front 12

PKU causes

maternal PKU

Back 12

High phenylalanine and phenyketones b/c low phenylalanine hydroxylase (phenylalanine -> tyrosine) or TH4 cofactor (rare) -> give biotinidase

Hint 12

Maternal PKU really bad -> microcephaly, grow retardation, heart defects

Front 13

Dark skin, pigmented sclera black urine on standing?

Back 13

Alkaptonuria (ochronosis)

Hint 13

high tyrosine b/c bad metabolism of it (deficient homogentisic acid oxidase)

Benign, some arthralgias

Front 14

Causes of albanism

Back 14

Low tyrosine (transporters stink), AR tyrosinase deficiency

Hint 14

increase risk of skin cancer

Front 15

Homocystinuria

Back 15

edit

Hint 15

edit

Front 16

Cystinuria

Back 16

edit

Hint 16

edit

Front 17

MSUD

Back 17

edit

Hint 17

edit

Front 18

Gout from high uric acid causes?

Back 18

defect HGPRT (X-recessive) = Lesh-Nyhan syndrome (self mutilation, gout, aggression)

Hint 18

cant salvage purines so they get degraded into uric acid (NOT UREA)

Front 19

SCID

Back 19

from problem w/ IL's orrr...

Hint 19

problem w/ recyling of dATP -> high dATP inhibits ribonucleotide reductase -> low DNA synth -> low lymphocyte effectiveness

Front 20

Glycogen synthase deficiency

Back 20

sever hypoglycemia, anything else?

Hint 20

Type 0

Front 21

Glucose-6-phosphatase deficiency

Back 21

Hepatomegaly, hypoglycemia, lacate up (no gluconeogensis)

Hint 21

Type 1

Front 22

lysosomal alpha-1-4 glucosidase (acid maltase) POMPE's

Back 22

hepatomegally, cardiomegaly, weakness-> Death (trashes the pump)

breaks down glycogen in all cells

Hint 22

Type 2

Front 23

Debranching enzyme deficiency (Cori's)

Back 23

Mild hypoglycemia and hepatomegally, lactate levels NORMAL (gluconeogensis okay)

Hint 23

Type 3

Front 24

Branching enzyme deficiency (Anderson)

Back 24

Hepatosplenomegally, cirrhosis, death around 5

Hint 24

Type 4

Front 25

Muscle glycogen Phosphorylase (McArdls)

Back 25

Exercise induced cramps, rhadbomyolsis, myoglobinuria

Hint 25

Type 5

Front 26

Liver glycogen phosphoralase (Hers)

Back 26

hypoglycemia, hepatomegally, OKAY

Hint 26

type 6

Front 27

Muscle phosphofructokinase deficiency (Tarui's dz)

Back 27

exercise-induced muscle cramps, growth retardation, hemolytic anemia

Hint 27

type 7

Front 28

What transporter do you use for making and metabolizing FA's

Back 28

Citrate = Syntrate
Carinitine = Carnage the FAs

Hint 28

TCA inside the mitochondria, shuttle out OAA through citate, amke FAs with NADPH

Bring FAs in w/ carinitine -> make ketone bodies and OAA for TCA

Front 29

LCAT function

CETP function

Back 29

Esterify cholesterol for return to liver
Tranfer cholesterol esters to other lipoproteins

Hint 29

LCAT is good,

Front 30

type I hypercholisterolemia

type IIa

Type IV

Back 30

Low/absent LPL (high TGs, cholesterol) -> nothing to take up trgs, cholesterol

Low LPL-R (LPL stays in circulation not taken up by cells) -> very high cholesterol

hepatic over production of VLDL -> very high TGs

Hint 30

chylomicrons incresase

LDL increased

VLDL increased

Front 31

Abeta-lipoproteinima

presentation and cause

Back 31

faiture to thrive, ataxia, night blidness, steatorrhea

Hint 31

AR deficiency in apoB-100 and apoB-48