Protein Metabolism

Question 1

Ornithine transcarbamoylase deficiency is ?

Answer 1

1- X-linked

2- Predominantly affects males.

Question 2

All of the other urea cycle disorders follow an ?

Answer 2

autosomal recessive

Question 3

Phenylketonuria (PKU) is ?

Answer 3

Autosomal recessive disorder, due to a mutation of

phenylalanine hydroxylase gene.

Question 4

Both parents are carriers of the mutated gene in ?

Answer 4

Phenylketonuria (PKU)

Question 5

Phenylketonuria (PKU) due to ?

Answer 5

deficiency of tyrosine.

Question 6

What is the CNS Symptoms of PKU ?

Answer 6

Symptoms of mental retardation by the age of one

year.

Question 7

Hydroxylation of tyrosine by ?

Answer 7

tyrosinase enzyme

Question 8

Hydroxylation of tyrosine by
tyrosinase enzyme, is the first
step in the formation of the ?

Answer 8

melanin pigment.

Question 9

In the PKU the BIOCHEMICAL CONCEPT For newborns with a ?

Answer 9

positive screening test

Question 10

What is the Diagnosis of PKU ?

Answer 10

Phenyl pyruvic acid can be detected in urine by
Ferric Chloride Test: Green color in positive cases
that lasts for 30 min.

Question 11

By blood test: blood is obtained by “heel stick” and collected on a special blotter paper is the Diagnosis of ?

Answer 11

Phenylketonuria (PKU)

Question 12

Treatment of PKU must begin during the ?

Answer 12

first 7-10 days

Question 13

Kuvan is Treatment of ?

Answer 13

Phenylketonuria (PKU)

Question 14

Kuvan is effective only in :

Answer 14

1- some PAH activity.

2- phenylalanine-restricted diet.

Question 15

Alkaptonuria is ?

Answer 15

autosomal recessive disease.

Question 16

Alkaptonuria is deficiency in ?

Answer 16

homogentisic acid oxidase

Question 17

Addition of ferric chloride to urine, will turn the

urine black in patients with ?

Answer 17

alkaptonuria

Question 18

Black Bone Disease or Black urine Disease is ?

Answer 18

Alkaptonuria

Question 19

Treatment of Alkaptonuria:

Answer 19

High-dose vitamin C.

Question 20

Maple Syrup Urine Disease is ?

Answer 20

autosomal recessive disease

Question 21

Maple Syrup Urine Disease due to deficiency in ?

Answer 21

branched-chain α-keto acid dehydrogenase

Question 22

Maple Syrup Urine Disease characterized by a ?

Answer 22

sweet, maple syrup-like odor in

the urine.

Question 23

Maple syrup disease is diagnosed by:

Answer 23

Characteristic odor of the patient.

Question 24

The ferric chloride test sometimes produces a navy

blue color in ?

Answer 24

Maple syrup disease

Question 25

Positive 2,4-dinitro-phenyl-hydrazine test on urine in the ?

Answer 25

Maple syrup disease

Question 26

Homocystinuria due to a deficiency of ?

Answer 26

cystathionine synthetase

Question 27

Homocystinuria is ?

Answer 27

autosomal recessive mode.

Question 28

What is the Diagnosis of Homocystinuria ?

Answer 28

Positive urinary cyanide nitroprusside reaction,

burgundy color

Question 29

In the Homocystinuria the Folate, B12 & B6 are 3 vitamins involved in the
conversion of ?

Answer 29

homocysteine to methionine or cysteine.