Biochem metabolism

Question 1

Glucose 6 phosphate dehydrogenase deficiency classic finding

Answer 1

-X-linked recessive : most common enzyme deficiency
-NADPH low = glutathione cant detox
-hemolytic anemia
Bite into some Heinz ketchup
-Heinz bodies= Hemoglobin precipitate within RBC b/c free radicals
-bite cells

Question 2

McArdle disease

Answer 2

Type V
-Glycogen storage disease
Symptoms:
-intolerance to exercise (Muscle cramps)
-deficiency Myophosphorylase effect glycogen phosphorylase
- urine discoloration (Myoglobinuria) red urine

Question 3

Cori disease

Answer 3

Type III glycogenolysis impairment 
-Debranching enzyme impairment 
Symptoms:
-hepatomegaly 
-ketotic hypoglycemia
-hyptonia and weakness
-accumulation limit dextrin

Question 4

von Gierke disease

Answer 4

Type I glycogenolysis impairment

• Glucose 6 phosphatase deficiency
• symptoms:
  1. Heptomegaly (glycogen in liver) and steatosis (fatty liver)
  2. Fasting hypoglycemic
  3. Lactic acidosis
  4. Hyperuricemia (Gout)
  5. Hyperlipdemia

Question 5

Pompe disease

Answer 5

Type II glycogenolysis impairment 
-alpha glucosidase impairment 
-Normal glucose
Symptoms 
1. severe cardiomegaly
2. Glycogen accumulation in lysosome

Question 6

Nitrogen transport and disposal in what form?

Answer 6

1. Alanine - alpha ketoglutarate + glutamate - NH3 - urea (liver) - urine
   - remove excess nitrogen and source carbon skeleton for gluconeogenesis
2. glutamine (body tissue)
   - convert to glutamate in kidney
   - NH4 byproduct (regulate acid-base status)

Question 7

Pyruvate dehydrogenase complex deficiency

Answer 7

X linked
-Build up pyruvate 
-Shunt to lactate via LDH
-shunt to alanine via ALT
Tx: high fat diet w/ lysine and leucine 
Lysine and Leucine - onLy pureLy ketogenic AAs

Question 8

TCA cycle substrates

Answer 8

Citrate Is Kreb's Starting Substrate For Making Oxaloactetate
Citrate 
Isocitrate
alpha-KG
Succinly-coa
Succinate
Fumarate 
Malate 
Oxaloacetate

Question 9

Things made from pyruvate

Answer 9

Alanine, lactate, oxaloacetate, acetyl-CoA

Question 10

Regulation fructose 2,6-bisphosphate full vs starving

Answer 10

Starving= increase protein kinase A = FBPase-2= gluconeogensis
Full= decrease protein kinase A = PFK-2 = glycolysis

Question 11

Rate limiting enzyme glycolysis

Answer 11

PFK-1

Question 12

Gluconeogenesis rate limiting enzyme

Answer 12

Fructose 1,6-bisphosphatase

Question 13

Glycolysis enzymes that produce ATP

Answer 13

Phosphoglycerate kinase

Pyruvate kinase

Question 14

Hexokinase in?

Answer 14

All tissues, convert glucose to glucose-6-P

Question 15

Glucokinase where

Answer 15

Liver and beta pancreas, convert glucose to glucose-6-P

Question 16

PKU

Answer 16

-phenylketonuria
-decrease phenylalanine hydroxylase
-tyrosine essential
disorder AROMATIC aa metabolism= musty body ODOR

Question 17

Maple syrup urine disease

Answer 17

Block degrade branched AA (Isoleucine, Leucine, Valine)

I Love Vermont MAPLE SYRUP

Question 18

Urine turns bala when exposed to air long time and bluish black spots on hands, diagnosis?

Answer 18

Alkaptonuria

Question 19

Niemann-Pick disease

Answer 19

No man picks (Niemann Pick) his nose with his SPHINGer (SPHINGomyelinase defient enzyme)

Question 20

Tay-Sachs disease

Answer 20

Tay-SaX lacks heXosamindase

Lysosomal storage disease

Question 21

Hunter syndrome

Answer 21

Hunters see clearly (no corneal clouding) and aggressively aim for the X (x linked recessive)
Lysosomal storage disease

Question 22

Channels used in mitochondria for FA metabolism

Answer 22

Citrate shuttle
-Sytrate= Synthesis
-allow citrate out of mitochondria for syntheiss
Carnitine shuttle
-CARnitine = CARnage of FAs
-allow Fatty Acyl-CoA into mitochondria for degrade

Question 23

Starvation days 1-3 fuel

Answer 23

Glucose maintained by:

• hepatic glycogenolysis
• adipose FFA give energy to muscle and liver
• glycogen gone after 24 hours

Question 24

Fasting between meals energy source

Answer 24

Glycogen storage from liver major source

Question 25

Starvation after 3 days energy source

Answer 25

Ketone bodies main source for brain)

Question 26

Rate limiting enzyme in cholesterol syntheiss

Answer 26

HMG CoA reductase(induced by insulin) | Statins inhibit

Question 27

Hyperchylomicronemia

Answer 27

``` AR Deficiency lipoprotein Increased chylomicrons, TG, cholesterol 1. Pancreatitis 2. Hepatosplenomegaly 3. Pruritic xanthomas No risk atherosclerosis ```

Question 28

Familial hypercholesterolemia

Answer 28

``` AD Defect LDL receptor High LDL, cholesterol 1. Accelerated atherosclerosis (young MI) 2. Tendon Achilles xanthomas ```

Question 29

Hyper triglyceridemia

Answer 29

``` AD Overproduction VLDL High VLDL, TG 1. Hypertriglyceridemi (>1000) 2. Acute pancreatitis ```