Aminoacids metabolism and Diseases

Question 1

What is the variable portion in Aminoacids

Answer 1

Side Chain R (Especific for each aminoacid)

Question 2

What is the constant portion in Aminoacids

Answer 2

Amino group + Carboxylate group (Same for all)

Question 3

How many essential aminoacids are there?

Answer 3

9

Question 4

Essential aminoacides

Answer 4

Arginine
Histidine
Leucine
Isoleucine
Lysine
Methionine
Penylalaline
Threonie
Tryptophan
Valine

Question 5

Which aminoacids are essential Ketogenic

Answer 5

Leucine / Lysine

Question 6

How do you categorize aminoacids

Answer 6

Whether if they can be degraded to glucose or ketone bodies

Question 7

What is the main function of Urea Cycle

Answer 7

Conversion of toxic ammonia into non-toxic UREA

Question 8

Ammonia is the product of

Answer 8

Aminoacid Metabolism (Amino group)

Question 9

Urea cycle’s reactant

Answer 9

Ammonia and CO

Question 10

Urea cycle’s final product

Answer 10

• Ornithine
• Urea

Question 11

Which molecules are necessary in order to convert Ammonia into Urea

Answer 11

ATP and Aspartate

Question 12

Where does the Urea cycle occur

Answer 12

Mitochondria and Cytosol of Liver Cells

Question 13

Regulation of Urea Cycle

Answer 13

Allosteric at Carbamoyl Phosphate Synthetase-1
Stimulated by : N-acetylglutamine

Question 14

Ornithine Transcarbamylase deficiency causes stoppage at which step in Urea Cycle

Answer 14

Last step

Question 15

Ornithine Transcarbamylase deficiency inheritance pattern

Answer 15

X-Linked Recessive

Question 16

Lab findings in Ornithine Transcarbamylase deficiency

Answer 16

Increased Ammonia and OROTIC ACID
Decreased BUN

Question 17

What is the Cahill Cycle function?

Answer 17

Transport of amino groups from AA in muscle into the liver for disposal of AA via Urea Cycle

Question 18

Which via does Cahill Cycle send AA from muscle to Liver

Answer 18

Alanine

Question 19

Cori Cycle function

Answer 19

Transport lactate made in muscle into the liver for conversion of Glucose via Gluconeogenesis

Question 20

PKU is caused by deficiency of

Answer 20

Phenylalaline Hydroxilase

Question 21

Increased and decreased products in PKU

Answer 21

Increased Phenylalanine
Decreased Tyrosine

Question 22

PKU clinical features

Answer 22

Intellectual disability/Seizures + ALBINISM + MUSTY ODDOR + Eczema

Question 23

Diagnosis of PKU can be made by

Answer 23

Detection of Excess Phenyl Ketones in urine

Question 24

Treatment of PKU

Answer 24

Avoidance of Phenylalanine
Supplementation with Tyrosine

Question 25

Maple Syrup Disease is caused by deficiency of

Answer 25

Branched-chain Alpha Ketoacid Dehydrogenase

Question 26

Which AA are branched-chain

Answer 26

Valine, Leucine, Isoleucine.

Question 27

Treatment of Maple Syrup Disease

Answer 27

Avoidance of Branched-chain aminoacids

Question 28

Maple Syrup disease clinical features

Answer 28

Fruity urine smell + Intelectual Disability + Vomiting + Seizures

Question 29

Alkaptonuria is caused by deficiency of

Answer 29

Homogentisate oxidase

Question 30

Alkaptonuria clinical features

Answer 30

Arthritis + Blue discoloration of Ear/Sclera/Cheeks

Question 31

Alkaptonuria main feature for diagnosis

Answer 31

Urine turns black when exposed to air

Question 32

Homocystinuria is caused by deficiency of

Answer 32

Cysthatione Synthase or Metionine Shyntase

Question 33

Homocystinuria's clinical features

Answer 33

MARFANOID HABITUS + LENS SUBLUXATION + Atherosclerotic disease + Intelectual disability

Question 34

Diagnosis of Homocystinuria

Answer 34

Elevated Homocysteine in urine

Question 35

Cysthatione Synthase needs ___ as cofactor

Answer 35

B6

Question 36

Methionine Synthase needs ____ as Cofactor

Answer 36

B12

Question 37

Treatment of Homocystinuria

Answer 37

MS deficiency = Supplementation with Methionine CS deficiency = Avoidance of methionine and Supplementation with B6

Question 38

Propionic Acidemia is caused by deficiency of

Answer 38

Propionyl Co-A Carboxylase

Question 39

Propionic Acidemia clinical features

Answer 39

Poor feedin + Lethargy + Cardiomyopathy

Question 40

Diagnosis of Propionic Acidemia

Answer 40

Elevated levels of - Ammonia - Propionyl Co-A - Propionic acid in URINE/BLOOD