Amino Acids

Question 1

Their R groups are mostly Hydrocarbons (CH)

Answer 1

Non-polar hydrophobic

Question 2

Their R groups are Alcohol, Phenol, Thiol, Amide

Answer 2

Polar and charged

Question 3

Their R group can’t be seen but supposedly, the oxygen has a NEGATIVE charge

Answer 3

POLAR ACIDIC

Question 4

positive charge can be seen its side chains

Answer 4

POLAR BASIC

Question 5

When degraded = produce either Acetoacetyl-CoA/Acetyl-CoA

Answer 5

Ketogenic amino acids

Question 6

Generate precursors of glucose.

Answer 6

Glucogenic amino acids

Question 7

A class of inherited errors of metabolism in which there is an ENZYME DEFECT that inhibits the body’s ability to metabolize certain amino acids

Answer 7

AMINOACIDOPATHIES

Question 8

PKU is due to the absence of enzyme —

Answer 8

Phenylalanine hydroxylase (PAH)

Question 9

phenylalanine hydroxylase catalyzes the conversion of - to -

Answer 9

Phenylalanine to tyrosine

Question 10

Increase of Phenylalanine on the
BLOOD

Answer 10

Hyperphenylalaninemia

Question 11

There is a presence of
Phenylalanine in the URINE

Answer 11

Phenylketonuria

Question 12

Characterized by its musty/mousy odor

Answer 12

PKU

Question 13

derived from the DEAMINATION of phenylalanine

Answer 13

PHENYLPYRUVATE

Question 14

a biochemical process that involves the REMOVAL OF AN AMINO GROUP (-NH2) from an organic compound, particularly an amino acid.

Answer 14

DEAMINATION

Question 15

a type of chemical reaction in which two or more molecules combine to form a new compound that has an extended system of delocalized electrons.

Answer 15

CONJUGATION

Question 16

Guthrie Bacterial Inhibition Assay

• Bacteria that is incorporated in the agar plate

Answer 16

Spores of BACILLUS SUBTILIS

Question 17

A semiquantitative, bacterial
inhibition assay for phenylalanine based on the ability of phenylalanine to facilitate bacterial growth in a culture medium despite the presence of a growth inhibitor.

Answer 17

GUTHRIE BACTERIAL INHIBITION ASSAY

Question 18

direct measurement of phenylalanine in DRIED BLOOD FILTER DISKS

Answer 18

MICROFLUOROMETRIC ASSAY

Question 19

Microfluorometric Assay

• tes requires pretreatment of the blood filter disk w

Answer 19

Trichloroacetic acid

Question 20

The procedure is based on the FLUORESCENCE OF A COMPLEX formed by phenylalanine, ninhydrin, and copper in the presence of a dipeptide (L-leucyl-L-alanine)

Answer 20

MICROFLUOROMETRIC ASSAY

Question 21

gold standard for detecting a variety of congenital diseases in newborns.

Answer 21

TANDEM MASS SPECTROMETRY

Question 22

This form of tyrosinemia is caused by a mutation in the FAH gene, which codes for the enzyme fumarylacetoacetate hydrolase (FAH)

Answer 22

Type 1 tyrosinemia

Question 23

caused by a mutation in the TAT gene, which leads to a deficiency of the enzyme tyrosine aminotransferase (TAT)

Answer 23

Type II tyrosinemia

Question 24

a rare disorder

caused by a mutation in the HPD gene that results in deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD)

Answer 24

Type II tyrosinemia

Question 25

toxic metabolite that forms when tyrosine cannot be metabolized through the appropriate enzymatic pathway.

Answer 25

Succinylacetone

Question 26

Treatment for tyrosinemia

Answer 26

Low protein diet + nitisinone

Question 27

Alkaptonuria —> deficient in enzyme -

Answer 27

Homogentisate oxidase

Question 28

1st symptom of alkaptonuria

Answer 28

Arthritis like degeneration

Question 29

DARK BLUE BLACK PIGMENTATION when HGA is deposited in the cartilage of the ears, nose, and tendons of the extremities

Answer 29

OCHRONOSIS

Question 30

Maple syrup disease is due to the absence of a complex of enzymes known as

Answer 30

A-keto acid decarboxylase

Question 31

Screening fr maple syrup disease utilizes an agar plate containing —- for the modified Guthrie test

Answer 31

4-azaleucine

Question 32

Autosomal recessive disorder; mutation of the IVD gene

Answer 32

Isovaleric acidemia

Question 33

Treatment for Isovaleric acidemia

Answer 33

- protein restrictive diet - oral accumulation of glycine and carnitine

Question 34

Mutation n the CBS gene (deficiency of the enzyme cystathionine β- synthase)

Answer 34

Homocystinuria

Question 35

This deficiency results in elevated plasma and urine concentrations of METHIONIEN and of the precursor HOMOCYSTEINE.

Answer 35

HOMOCYSTINURIA

Question 36

Treatment of homocystinuria

Answer 36

Reduce conc. Of methionine and high doses of vit b6

Question 37

Cyanide-Nitroprusside Urine Spot Test produce what color

Answer 37

Red purple color

Question 38

Confirmation of homocysteine

Answer 38

Silver-nitroprusside Test

Question 39

In Silver-nitroprusside Test— Silver nitrate reduces homocysteine to form -

Answer 39

Reddish color

Question 40

Result of a mutation in the ASS1 gene ○ Lack of the enzyme argininosuccinic acid synthetase (ASS)

Answer 40

Type I citrullinemia

Question 41

Caused by a mutation in the SLC25A13 gene whch codes for prod of citrin

Answer 41

Type II citrullinemia

Question 42

cells are prevented from making citrin, which inhibits the urea cycle

Answer 42

Type II citrullinemia

Question 43

THe result of a mutation in the ASL gene LACk the enzyme argininosuccinic acid lyase (ASL)

Answer 43

Argininosuccinic aciduria

Question 44

Characterized by inadequate reabsorption of cystine during urine formation in the kidneys

Answer 44

Cystinuria

Question 45

A RED-PURPLE COLOR on reaction with sulfhydryl groups for diagnosis of cystinuria

Answer 45

Cyanide nitroprusside test

Question 46

Aromatic urine odor

Answer 46

Normal

Question 47

Foul, ammonia like urine odor

Answer 47

Bacterial decomposition Urinary tract Infection

Question 48

Fruity sweet urine odor

Answer 48

Ketones (diabetes mellitus, starvation, vomiting)

Question 49

Maple syrup burnt sugar urine odor

Answer 49

Maple syrup urine disease

Question 50

Mousy urine odor

Answer 50

Phenylketonurria

Question 51

Rancid urine disorder

Answer 51

Tyrosinemia

Question 52

Sweaty feet urinen odor

Answer 52

Isovaleric acidemia

Question 53

Cabbage urine dor

Answer 53

Methionine malabsorption

Question 54

Bleach urine odor

Answer 54

Contamination