AA

Question 1

How many essential AA are there

Answer 1

10

Question 2

What are the essential AA

Answer 2

“PVT TIM HaLL”

• Phe
• Val
• Trp
• Thr
• Ile
• Met
• His
• Leu
• Lys

Question 3

Which AA are glucogenic

Answer 3

• Met
• His
• Val

Question 4

Which AA are glucogenic/ketogenic

Answer 4

• Ile
• Phe
• Thr
• Tryp

Question 5

Which AA are purely ketogenic

Answer 5

• Leu
• Lys

Question 6

Which AA are required during periods of growth

Answer 6

Arginine and Histidine

Question 7

Which AA are increased in histones

Answer 7

Arginine and lysine

Question 8

What AA makes tyrosine, dopamine, NE, Epi

Answer 8

Phe

Question 9

Melanin comes from

Answer 9

Dopa (from tyrosine, from Phe)

Question 10

Which AA makes NAD+/NADP+ and melatonin

Answer 10

Tryptophan

• Niacin –> NAD+/NADP+
• Serotonin –> Melatonin

Question 11

Which AA makes heme

Answer 11

Glycine

Makes prophyrin (w/B6) which makes heme

Question 12

Which AA makes GABA (w/B6) and Glutathione

Answer 12

Glutamate

Question 13

Which AA makes creatine, urea, nitric oxide

Answer 13

Arginine

Question 14

BH4 (tetrahydrobiopterin) is required for what processes

Answer 14

1. Phe to Tyrosine
2. Tyrosine to Dopa
3. Tryptophan to serotonin
4. Arginine to Nitric oxide

Question 15

B6 is required for which AA processes

Answer 15

1. Dopa to dopamine
2. Tryptophan to Niacin (w/B2)
3. Tryptophan to serotonin (w/BH4)
4. Histidine to Histamine
5. Glycine to Porphyrin
6. Glutamate to GABA

Question 16

Vitamin C is required for what AA process

Answer 16

Dopamine to NE

Question 17

SAM is required for what AA process

Answer 17

NE to Epi

Question 18

What are the steps to making catecholamines

Answer 18

Phe–>Tyrosine–>DOPA–>Dopamine–>NE–>Epi

Question 19

What is defective in PKU

Answer 19

phenylalanine hydroxylase

Question 20

What is defective in Alkaptonuria

Answer 20

Homogentisate oxidase

Question 21

What is defective in albinism

Answer 21

Tyrosinase

Question 22

Carpidopa inhibits what

Answer 22

DOPA decarboxylse

no DOPA to Dopamine

Question 23

Cortisol acitvates

Answer 23

phenylethanolamine-N-methyltransferase

NE to Epi

Question 24

Epi is turned into Metanepherine by

Answer 24

COMT

Question 25

NE is turned into normetanephrine (vanillylmandelic acid) by

Answer 25

COMT

Question 26

PKU is d/t

Answer 26

decrease Phe (aromatic AA) hydroxylase or decrease BH4 cofactor (malignant PKU) AR screening 2-3 days after birth

Question 27

What becomes essential in PKU

Answer 27

Tyrosine

Question 28

Increase in Phe causes

Answer 28

increase in phenyl ketones in urine

Question 29

Symptoms of PKU

Answer 29

* intellectual disability * growth retardation * seizures * fair complexion * eczema * **musty body odor**

Question 30

How to treat PKU

Answer 30

* decrease Phe * increase tyrosine in diet * BH4 supplementation

Question 31

Why are PKU babies normal at birth

Answer 31

maternal enzyme present during fetal life

Question 32

What must PKU patients avoid

Answer 32

artificial sweetener aspartame has Phe

Question 33

Maple syrup urine disease is d/t

Answer 33

AR: blocked degradation of **branched AA** d/t **decreased branched chain alpha-ketoacid DH (B1)** * Ile * leu * val

Question 34

In maple syrup disease there is an increase in what

Answer 34

alpha-ketoacids in blood, especially those of leucine

Question 35

How to treat maple syrup disease

Answer 35

* restrict branched chain AA (val, ile, leu) in diet * thiamine supplementation

Question 36

Maple syrup disease symptoms

Answer 36

* urine smells like burnt sugar/maple syrup * vomiting * poor feeding * severe CNS defects * interllectual disability * death

Question 37

Alkaptonuria is d/t

Answer 37

AR congenital deficiency of **homogentisate oxidase** in degradative path of tyrosine to fumarate * pigment forming homogentisic acid builds up in tissue * usually benign

Question 38

Symptoms of alkaptonuria

Answer 38

* **bluish-black connective tissue**, ear cartilage, sclerae (ochronosis) * **urine turns black** on prolonged exposure to air * possible debiliating arthalgias (homogentisic acid toxic to cartilage)

Question 39

Homocystinuria is d/t what 4 causes

Answer 39

AR 1. cystathionine deficiency 2. decreased affinity of cystathionine synthase for pyridoxal phosphate 3. methionine synthase deficiency 4. MTHFR deficiency

Question 40

How to treat homocystinuria d/t cystathionine synthase deficiency

Answer 40

1. decrease methionine 2. increase cysteine, B6, B12, folate in diet

Question 41

How to treat homocystinuria d/t decrease affinity of cystathionine synthase for pyridoxal phosphate

Answer 41

increase B6 (alot) and cysteine in diet

Question 42

How to treat homocystinuria d/t methionine synthase deficiency

Answer 42

increase methionine in diet

Question 43

How to treat homocystinuria d/t MTHFR deficiency

Answer 43

increase folate in diet

Question 44

All forms of homocystinuria cause

Answer 44

1. increase homocysteine in urine 2. osteoporsis 3. marfanoid habitus (binds to fibrillin-1) 4. ocular changes (down and in lens subluxation) 5. cardio effects (thrombosis and atherosclerosis, stroke and MI) 6. Kyphosis 7. intellectual disability 8. fair complexion

Question 45

Why does homocystinuria cause thrombosis

Answer 45

homocysteine binds to endothelial cells = proinfammatory cytokines

Question 46

Cystinuria is d/t

Answer 46

hereditary defect of renal PCT and intestinal AA transporter that prevents reabsorption of "COLA" * cystine * ornithine * lysine * arginine

Question 47

what can too much cystine in urine do

Answer 47

hexagonal cystine stones

Question 48

how to treat cystinuria

Answer 48

* urinary alkalinization (potassium citrate, acetazolamide) * chelating agents (penicillamine) increase solubility of stones * good hydration

Question 49

How to diagnose cystinuria

Answer 49

AR urinary cyanide-nitroprusside test

Question 50

What is propionic acidemia d/t

Answer 50

AR deficiency of propionyl-CoA carboxylase excess propionyl-CoA decrease methymalonic acid

Question 51

findings of propionic acidemia

Answer 51

* poor feeding * vomiting * hypotonia * **anion gap metabolic acidosis** * hepatomegaly * **seizures**

Question 52

How to treat propionic acidemia

Answer 52

low protein diet that does not have ile, met, thr, val

Question 53

Substances that metabolize into propionyl-CoA cause you to VOMIT

Answer 53

**V**aline **O**dd-chain FA **M**ethionine **I**soleucine **T**hreonine