Inborn Errors Of Urea Cycle

Question 0

Urea cycle also called

Answer 0

Ornithine cycle

Kreb’s henseleit cycle

Question 1

Urea

Answer 1

Carbamide

Question 2

Urea cycle consists of five reactions

Answer 2

2 mitochondria

3 cytosolic

Question 3

CO2 + H2O ( bicarbonate and ammonia) to carbamoyl phosphate

Answer 3

Carbamoyl phosphate synthetase 1

Question 4

Carbamoyl phosphate + ornithine

Answer 4

Citrulline

Enzyme: ornithine transcarbamoylase

Question 5

How many ATo used in first reaction of urea cycle?

Answer 5

2 ATP

Question 6

Citrulline to arginosuccinate

Answer 6

Arginisuccinate synthase

Question 7

How many ATP used un 3rd reaction of urea cycle?

Answer 7

1ATP

Question 8

Citrulline reacts with_______ then convert to arginosuccinate with the enzyme ________

Answer 8

Aspartic acid

Arginosuccinate synthetase

Question 9

Fumarate form of urea goes to

Answer 9

Krebs cycle

Question 10

Must be transported back to mitochondria to continue the urea cycle

Answer 10

Ornithine

Question 11

Citrulline reacts to ______ and ysed arginosuccinate synthase

Answer 11

Aspartate

Question 12

Arginosuccinate become ________ and ________ by the used of enzyme __________

Answer 12

Arginine and fumarate

Arginosuccinate lyase

Question 13

Arginine to ornithine

Answer 13

Arginase

Question 14

As by product in 3rd reaction in cytosol produce

Answer 14

Urea

Question 15

AA that nitrogen travels in the blood

Answer 15

Alanine

Glutamine

Question 16

CPS1

Answer 16

Urea cycle
Mitochondria
Ammonia
Activate by N-AGA ( N-AcetylGlutamicAcid)

Question 17

CPS2

Answer 17

Pyrimidine
Cytosol
Glutamine
No activator

Question 18

Deficient enzyme in hyperammonemia type 1

Answer 18

Carbamoyl phosphate

Question 19

All disorder in UREA cylce is autosomal except to

Answer 19

Hyperammonemia type2

Question 20

Chromosome that affected in CPS deficiency?

Answer 20

Chromosome 2q35

Question 21

Urinary orotic acid is usually low or absent

Answer 21

Hyperammonemia type 1

Question 22

Deficient enzyme in hyperammonemia type 2

Answer 22

Ornithine trans carbomylase

Question 23

Most common form of the urea cycle disorder

Answer 23

HT2

Question 24

Walang elevation of glutamine and alanine sa

Answer 24

HT2

Question 25

Deficient enzyme in citrullinemia

Answer 25

Arginosuccinate synthetase

Question 26

Laboratory finding are similar to those in type2 but increase plasma citrulline mas mataas din ang orotic acid.

Answer 26

Citrullinemia

Question 27

Loaction of citrullinemia

Answer 27

Chromosome 9q34

Question 28

Enzyme deficient in arginosuccinate aciduria

Answer 28

Arginosuccinase

Question 29

Lacation of arginosuccinate aciduria

Answer 29

Chromosome 7

Question 30

Enzyme defect in hyoerarginemia

Answer 30

Arginase

Question 31

Location of hyperarginemia

Answer 31

Chromosome 6q23

Question 32

Increase glutamine and alanine but decrease citrulline

Answer 32

Hyperammonemia type 1

Question 33

Increase glutamine and alanine

Answer 33

Hyperammonemia type 2

Question 34

Increase citrulline

Answer 34

Citrullinemia

Question 35

Increase gluatamine, alanine, citrulline and arginosuccinic acid

Answer 35

Arginosuccinate acidosis

Question 36

Increase arginine, normal or increase lysine, cysteine and ornithine

Answer 36

Arginemia

Question 37

Decrease or absent of orothic acid

Answer 37

Hyperammonemia type 1

Question 38

Increase orothic acid | With gravel stone

Answer 38

Hyper ammonemia type 2

Question 39

Increase orothic acid

Answer 39

Citrullinemia | Argenemia

Question 40

Carbamoyl phosphate + aspartate

Answer 40

Orotic acid

Question 41

No conversion of NH4 to urea

Answer 41

HYperammonemia

Question 42

Glutamic acid + ammonia

Answer 42

Glutamine | Leads to hyperglutaminemia

Question 43

Ammonia react with alpha ketoglutarate to form

Answer 43

Glutamate

Question 44

3 fold basis of therapy

Answer 44

Limit protein intake Lactulose/levulose- prevent absorption of ammonia Replace depleted/ missing enzyme

Question 45

DOC

Answer 45

Neomycin

Question 46

Benzoic acid binds with glycine

Answer 46

Phenylacetateglutamine