Amino Acid Metabolism

Question 1

Alkaptonuria symptoms

Answer 1

1. Dark urine
2. Ochronosis
3. Arthritis

Question 2

Propionyl-CoA carboxylase converts what

Answer 2

Propionyl-CoA to Methylmalonyl-CoA

Question 3

orphyria cutanea tarda genetics

Answer 3

AD

Question 4

Carbamoyl phosphate synthetase 1 converts

Answer 4

NH₄ + HCO₃ + 2ATP to Carbamoyl phosphate

Question 5

Uroporphyringoen decarboxylase converts

Answer 5

Uroporphyringoen-3 to Coproporphyrinogen 3

Question 6

Homocystinuria symptoms

Answer 6

1. DVT
2. Stroke
3. Atherosclerosis
4. Marfan-like
5. Mental retardation
6. Joint contractures

Question 7

Acute intermitten porphyria is due to a deficiency of

Answer 7

Porphobilinogen deaminase (Hydroxymethylbilane synthase)

Question 8

Cystathionine Synthase converts what in AA metabolism

Answer 8

Homocysteine to Cystathionine

Question 9

ALA synthase repressed by

Answer 9

Heme

Question 10

Ornithine transcarbamoylase converts

Answer 10

Carbamoyl phosphate to Citrulline with addition of ornithine

Question 11

Carbon Skeleton can be converted in the liver to

Answer 11

Glucose (glucogenic amino acids)

Acetyl CoA

Ketone bodies (Ketogenic amino acids)

Question 12

Homocysteine methyl transferase converts what

Answer 12

Homocystein to methionine

Question 13

Phenylalanine hydroxylase requires

Answer 13

Tetrahydrobiopterin

Question 14

Lab results in a defect in the urea cycle

Answer 14

Hyperammonemia

Elevated blood glutamine

Decrease BUN

Question 15

Aminotransferases convert

Answer 15

Amino acids to α-Keto acids

α-Ketoglutarate to Glutamate

Question 16

Maple syrup urine disease symptoms

Answer 16

1. Urine has odor of maple syrup
2. Mental retardation
3. Abnormal Muscle tone
4. Ketosis
5. Coma, death

Question 17

PKU symptoms

Answer 17

1. Mental retardation
2. Musty odor
3. Microcephaly

Question 18

Porphobilinogen deaminase (Hydroxymethylbilane synthase) converts

Answer 18

Porphobilinogen to Hydroxymethylbilane

Question 19

Amino groups released by deamination reaction form

Answer 19

Ammonium ions (NH₄⁺)

Question 20

Maple syrup urine disease is due to

Answer 20

Deficiency of Branched-chain ketoacid dehydrogenase

Question 21

Urea synthesized from

Answer 21

Aspartate and carbamoyl phosphate

Question 22

Ferrochelatase inhibited by

Answer 22

Lead

Question 23

Alkaptonuria is due to

Answer 23

Deficiency of Homogentisate oxidase

Question 24

Alanine aminotransferase requires

Answer 24

B6

Question 25

Cystathionine synthase requires what

Answer 25

B6

Question 26

Ferrochelatase converts

Answer 26

Protoporphyrin 9 to Heme

Question 27

What Vit deficiency causes homocystinemia

Answer 27

Folate Vit B12 Bit B6

Question 28

Aminotransferases require

Answer 28

B6

Question 29

Glutamine is

Answer 29

Ammonia attached to the γ-carboxyl group of glutamate

Question 30

Propionyl-CoA carboxylase requires

Answer 30

Biotin

Question 31

Homogentisate oxidase converts

Answer 31

Homogentisic acid to Maleylacetoacetate

Question 32

Carbamoyl phosphate synthetase 1 requires

Answer 32

N-acetylglutamate

Question 33

Porphyria cutanea tarda is due to deficiency of

Answer 33

Uroporphyringoen decarboxylase

Question 34

ALA dehydratase converts

Answer 34

ALA to Porphobilinogen

Question 35

Phenylalanine hydroxylase converts

Answer 35

Phenylalanine to Tyrosine

Question 36

Porphyria cutanea tarda symptoms

Answer 36

1. Photosensitivity 2. Inflammation, blistering, shearing of skin 3. Hyperpigmentation 4. Exacerbated by alcohol 5. Red-brown to Deep-red urine

Question 37

Homocysteine methyl transferase require what

Answer 37

THF B12

Question 38

Never give barbs in

Answer 38

Acute intermitten porphyria

Question 39

Carbamoyl Phosphate Synthetase deficiency characteristics

Answer 39

* Hyperammoniemia * Increase blood glutamine * Decreased BUN * NO **orotic aciduria** * AR * Cerbral edema * Lethargy, convulsions, coma, death

Question 40

ALA dehydratase inhibited by

Answer 40

Lead

Question 41

Glutamate dehydrogenase requires

Answer 41

NAD

Question 42

Acute intermitten porphyria symptoms

Answer 42

1. Acute abdominal pain 2. Anxiety, Confusion, Paranoia 3. Port-wine urine

Question 43

Glutaminase converts

Answer 43

Glutamine to Glutamate releasing NH₃

Question 44

Methylmalonyl-CoA mutase converts what

Answer 44

Methylmalonyl-CoA to Succinyl-CoA

Question 45

Ornithine Transcarbamoylase deficiency characteristics

Answer 45

* Hyperammonemia * Increased blood glutamine * Decreased BUN * **Orotic aciduria** * X-linked recessive * Cerebral edema * Lethargy, convulsions, coma, death

Question 46

Methylmalonyl-CoA mutase requires

Answer 46

B12

Question 47

ALA synthase requires

Answer 47

B6

Question 48

Acute intermittent porphyria genetics

Answer 48

AD

Question 49

Phenylketonuria is due to

Answer 49

Phenylalanine hydroxylase deficiency

Question 50

Homocystinuria is due to deficiency of what enzyme

Answer 50

Cystathionine synthase

Question 51

ALA synthase converts

Answer 51

Glycine + Succinyl-CoA to ALA