MCM Urea cycle and AA metabolism

Question 1

Associated with homogentisic acid oxidase deficiency causing black urine and IV disks, blueish black pigmentation in the sclera

Answer 1

Alkaptonuria

Question 2

Produces a cabbage like odor because fumaryl-acetoacetate hydrolase deficiency

Answer 2

Tyrosinemia type 1

Question 3

Oculocutaneous albinism type 1 is from

Answer 3

Tyrosinase deficiency

Question 4

amino acids that are involved in maple syrup urine disease

Answer 4

Isoleucine, Leucine and Valine

Question 5

Disease associated with phenylalanine hydroxylase deficiency (BH4 deficiency)

Answer 5

PKU

Question 6

Musty odor in the urine and hypopigmentation

Answer 6

PKU

Question 7

Most severe form of PKU

Answer 7

BH4 deficiency

Question 8

Lack of tryptophan and niacin (B3) in diet causes

Answer 8

pellagra (4 D’s)

Question 9

Essential for bilirubin and steroid synthesis

Answer 9

UDP glucose

Question 10

Can be used as a bronchodilator in asthma patients

Answer 10

Caffeine

Question 11

Precursors for purine synthesis

Answer 11

N10-Formyl-FH4(2); Glycine; CO2; Glutamine(2); Aspartate

Question 12

Deficiencies will cause megaloblastic anemia (cell division)

Answer 12

Folate

Question 13

Enzyme that is the committed step in purine synthesis, takes PRPP and glutamine to make 5-phosphoribosylamine

Answer 13

GPA

Question 14

Forms AMP from IMP and aspartate

Answer 14

Adenylosuccinate synthetase and andenylosuccinase

Question 15

Nucleoside monophosphate kinase forms

Answer 15

GDP and ADP

Question 16

Nucleoside diphosphate kinase forms

Answer 16

GTP and ATP

Question 17

Regulates PRPP synthetase

Answer 17

GDP and ADP

Question 18

Regulates GPA

Answer 18

all of them

Question 19

PNP deficiency affects which cells

Answer 19

T cells

Question 20

Causes Lesch-Nyhan syndrome

Answer 20

HGPRT

Question 21

ADA 1 deficiency leads to

Answer 21

dATP

Question 22

Deficiency leads to hereditary orotic aciduria

Answer 22

UMP synthase and ornithine transcarbamoylase

Question 23

Deoxyribonucleotides occurs at what level by ribonucleotide reductase

Answer 23

Diphosphate

Question 24

2 ways to stop dUMP to dTMP

Answer 24

5-FU and methotrexate

Question 25

Inhibits ribonucleotide reductase

Answer 25

dATP

Question 26

RNA polymerase that produces rRNA

Answer 26

RNA polymerase 1

Question 27

RNA polymerase that produces mRNA

Answer 27

RNA polymerase 2

Question 28

RNA polymerase that produces tRNA

Answer 28

RNA polymerase 3