AMINO ACIDS AND AMINOACIDOPATHIES

Question 1

Amino acids are linked together by

Answer 1

peptide bonds/amide linkage.

Question 2

Formation is through dehydration synthesis/condensation.

Answer 2

Amino acids

Question 3

Interaction between COOH of one molecule reacts with the NH2 of the other molecule, releasing H2O forming amide.

Answer 3

Amino acids

Question 4

make amino acids differ from one another.

Answer 4

R- chains

Question 5

dietary source (not produced by the body)

Answer 5

Essential amino acids-

Question 6

produced by the body.

Answer 6

Non-essential amino acids-

Question 7

11 non-essential AA

C A4 G3 PST

Answer 7

Alanine
Arginine
Asparagine
Aspartic Acid
Cysteine
Glutamic Acid
Glutamine
Glycine
Proline
Serine
Tyrosine

Question 8

Essential AA

HILL MP T2V

Answer 8

Histidine
Isoleucine
Leucine
Lysine
Methionine
Phenylalanine
Threonine
Tryptophan
Valine

Question 9

21st AA named in 2002
Encoded in UGA (stop codon)

Answer 9

Selenocysteine (Sec)

Question 10

Selenium analogue of cysteine and found in enzymes formate dehydrogenases, glycine reductases and some hydrogenases.
Low level is found in HIV infected.

Answer 10

Selenocysteine (Sec)

Question 11

22nd AA (2002) not present in human.

Answer 11

Pyrrolysine (Pyl)

Question 12

Found in bacteria and archaea specifically the enzymes for methane-producing metabolism.
Encoded by the UAG (stop codon)

Answer 12

Pyrrolysine (Pyl)

Question 13

Inherited errors of metabolism due genetic mutation.

Answer 13

Aminoacidopathies

Question 14

Excessive amino acids result to toxicity to

Answer 14

brain, blood and tissues.

Question 15

used for early diagnosis and management. Confirmatory are mass spectrometry and molecular technique.

Answer 15

Newborn screening tests (NBS)

Question 16

What are the Aminoacidopathies

Answer 16

Phenylketonuria
Tyrosinemia
Alkaptonuria
Maple Syrup Urine Disease
Isovaleric Acidemia
Homocystinuria
Citrullinemia
Argininosuccinic Aciduria
Cystinuria

Question 17

Mutations in the PAH gene that result to defect in phenylalanine hydroxylase (PAH) enzyme reduction.

Answer 17

Phenylketonuria (PKU)

Question 18

PAH catalyzes the conversion of phenylalanine to ____.

Answer 18

tyrosine

Question 19

PAH gene defect

Answer 19

Phenylalanine Hydrolase

Question 20

excreted in the urine giving characteristic “musty” or “mousy” odor.

Answer 20

Phenylketonuria (PKU)

Question 21

Phenylketonuria (PKU) Screening test

Answer 21

Guthrie test

Question 22

Inhibitor of Guthrie test

Answer 22

B-2-thienylalanine

Question 23

Types of Tyrosinemia gene mutation and defect in
Type 1
Type 2
Type 3

Answer 23

FAH - Fumarylacetoacetate hydrolase
TAT - Tyrosine aminotransferase
HPD - 4-hydroxyphenylpyruvate dioxygenase

Question 24

Alkaptonuria gene mutation lead to the deficiency of ?

Answer 24

Homogentisate oxidase

Question 25

In the urine it produces brownish-black color when exposed in the air.

Answer 25

Alkaptonuria

Question 26

Alkaptonuria screening test

Answer 26

Ferric Chloride Test (turns balck when positive)

Question 27

MSUD gene mutation lead to absence or low

Answer 27

BCKDHA BCKDHB DBT

Question 28

MSUD enzyme

Answer 28

Branched-chain-a-ketoacid decarboxylase

Question 29

BCKD enzymes are responsible for ___, _____, and _____ metabolism. These are branched chain amino acids.

Answer 29

leucine, isoleucine, and valine

Question 30

In the urine it gives characteristic “maple syrup” or “burnt sugar” odor.

Answer 30

Maple syrup urine disease (MSUD)

Question 31

Maple syrup urine disease (MSUD) screening test

Answer 31

Modified Guthrie test (4-azaleucine used as inhibitor)

Question 32

IVD gene mutation result to deficiency in isovaleryl-CoA dehydrogenase (IVD) which metabolize of leucine.

Answer 32

Isovaleric acidemia (IVA)

Question 33

Sweaty feet odor of urine is distinctive characteristic.

Answer 33

Isovaleric acidemia (IVA)

Question 34

Isovaleric acidemia (IVA) gene mutation

Answer 34

Isovaleryl-CoA dehydrogenase

Question 35

CBS gene mutation (most common) result to deficiency in cystathionine β synthase responsible for methionine metabolism.

Answer 35

Homocystinuria

Question 36

Elevated concentration of methionine and homocysteine (precursor) in blood and urine.

Answer 36

Homocystinuria

Question 37

Homocystinuria Screening test:

Answer 37

Modified Guthrie Test (L-methionine sulfoximine used as inhibitor)

Question 38

Homocystinuria gene mutation

Answer 38

Cystathionine B synthase

Question 39

Urea Cycle disorders

Answer 39

Citrullinemia

Question 40

Citrullinemia Types Type I Type II

Answer 40

ASS1 gene mutation (argininosuccinic acid synthetase deficiency) SLC25A13 gene mutation (Citrin deficiency)

Question 41

Argininosuccinic Aciduria gene mutation

Answer 41

Argininosuccinic acid lyase

Question 42

Elevated level of ammonia in the blood.

Answer 42

Argininosuccinic Aciduria

Question 43

SLC3A1 and SLC7A9 genes mutation codes for the production of protein the kidney responsible for reabsorption of cystine.

Answer 43

Cystinuria