Unit 2 - Redone

Question 1

Humans contain combinations of how many amino acids for protein?

Answer 1

20 amino acids

Question 2

How many amino acids are essential and cannot be synthesized?

Answer 2

9

Question 3

What organs play a role in amino acid synthesis? What are the roles?

Answer 3

Liver and Kidneys
Transamination and deamination

Question 4

Ampholyte

Answer 4

Ionized molecule with both negative and positive charges

Question 5

Peptide bond

Answer 5

Bond between amino end of one a.a. and carboxyl end of next a.a.

Question 6

Isoelectric point

Answer 6

pH where amino acid has no net charge

Question 7

What determines an amino acid’s isoelectric point or pI?

Answer 7

R group

Question 8

When a peptide bond forms, what releases?

Answer 8

Water

Question 9

Which part of an amino acid is capable of donating hydrogen?

Answer 9

Amino group (NH3+)

Question 10

Which part of amino acid is capable of accepting hydrogen?

Answer 10

Carboxyl group (COO-)

Question 11

Why is water released from a peptide bond?

Answer 11

COOH gives up OH
NH2 gives up H

Question 12

Oligopeptide

Answer 12

Short chain, up to 5 a.a.

Question 13

Polypeptide

Answer 13

Chain of 6-30 a.a.

Question 14

Proteins

Answer 14

Complex compounds with >40 a.a.

Question 15

Proteome

Answer 15

Total array of proteins expressed by an organism’s genetic material under certain conditions

Question 16

Aminoacidurias are either

Answer 16

Overflow or renal issues

Question 17

Overflow

Answer 17

Blood/Plasma levels high
Renal threshold surpassed

Question 18

Renal aminoacidurias

Answer 18

Blood/Plasma levels normal
Kidneys can’t reabsorb amino acid properly

Question 19

Aminoacidopathies

Answer 19

Defect in handling parent amino acid (earlier in the line)

Question 20

Organic acidemias

Answer 20

Defect in catabolic pathway (later down the line)

Question 21

Normal phenylalanine handling

Answer 21

Phenylalanine + OH = Tyrosine

Question 22

What is the main problem in PKU?

Answer 22

Virtually absent hydroxylase, can’t produce tyrosine

Question 23

What is the product of PKU?

Answer 23

Instead of tyrosine, it’s toxic phenylpyruvate

Question 24

What does toxic phenylpyruvate cause?

Answer 24

Failure to thrive in infants, can lead to irreversible retardation

Question 25

What is the fix for PKU?

Answer 25

Avoid milk or aspartame Take tyrosine

Question 26

How is PKU identified?

Answer 26

Screening after sufficient milk feedings OR Mousy odor, blue-green color after addition of ferric chloride

Question 27

When is PKU usually diagnosed?

Answer 27

Early on, at birth

Question 28

What kind of amino acid issue is PKU?

Answer 28

Overflow, phenylalanine elevates in blood, CSF, urine

Question 29

Tyrosine is a precursor for

Answer 29

Thyroid hormones Adrenal hormones Melanine

Question 30

Tyrosinemia 1

Answer 30

Low fumarylactoacetate hydrolase Near END of pathway

Question 31

Tyrosinemia 2

Answer 31

Low tyrosine aminotransferase Near START of pathway

Question 32

Tyrosinemia 1 can cause

Answer 32

Failure to thrive Liver/Spleen enlargement Photophobia Rickets Liver disease/Cirrhosis Tyrosine crystals in urine

Question 33

Tyrosinemia 2 can cause

Answer 33

Issues with eyes, skin, brain

Question 34

Alkaptonuria ususally diagnosed by

Answer 34

Urine blacken upon standing

Question 35

Alkaptonuria occurs because of

Answer 35

Homogentisic acid low or missing

Question 36

Why does urine darken in alkaptonuria

Answer 36

Alkaline urine, time/exposure to air

Question 37

Diagnosis of alkaptonuria

Answer 37

HGA levels in blood Quick confirmation from adding base to fresh urine to see if it will darken

Question 38

Why does melanuria cause urine to blacken upon standing

Answer 38

Excess melanin from malignant melanoma

Question 39

What does tumor secrete in melanuria

Answer 39

5,6 dihyroxyindole

Question 40

Two major types of branched chain amino acid disorders

Answer 40

Maple syrup urine disease organic acidemias

Question 41

Burnt sugar odor

Answer 41

Maple syrup urine disease

Question 42

Sweaty feet odor

Answer 42

Organic acidemias

Question 43

What kind of amino acid issue is cystinuria

Answer 43

Renal aminoaciduria

Question 44

What is the main issue in cystinuria

Answer 44

Cystine not reabsorbed by the kidney because of lack of enzyme

Question 45

Diagnosis of cystinuria

Answer 45

Increased cystine, lysine, arginine, ornithine Cystine crystals in urine

Question 46

Cystinuria treatment

Answer 46

Keep urine at a n alkaline pH so crystals dont form

Question 47

Cystinosis

Answer 47

Accumulation of cystine in the tissues

Question 48

Two types of aminoacid urias

Answer 48

Overflow Renal aminoaciduria

Question 49

Two types of inborn errors of metabolism of amino acids

Answer 49

Aminoacidopathy Organic acidemia

Question 50

What is in excess in an aminoacidopathy?

Answer 50

Parent amino acid

Question 51

What is in excess in an organic acidemia?

Answer 51

Metabolic products

Question 52

Historic tests for IDing amino acid problems

Answer 52

Guthrie Chemical tests Urinalysis Thin Layer Chromatography

Question 53

Guthrie test

Answer 53

Agar, everything but amino acid of interest Bacillus subtitles If organism grows, that means there is high amounts of that amino acid present

Question 54

Chemical testing

Answer 54

Color produced when reacts with ferric chloride

Question 55

TLC

Answer 55

Specimen on medium Medium in solvent Amino acids move based on interaction with solvent a.a. ID'd based on color and position

Question 56

HPLC

Answer 56

As amino acids elute, they're separated based on mass to charge ratio

Question 57

When is newborn screening done?

Answer 57

When it can be caught in 24-48 hours Can't be tested based on clinical symptoms There's a test to identify it leading to treatment and intervention

Question 58

Specimen requirements for newborn screening

Answer 58

Normal diet at least 24 hours prior Fasting 6-8 hours