Diagnostic

Question 1

Atractyloside affects the production of ATP by phosphorylation through what mechanism?

Answer 1

Prevention of entry of ADP into the mitochondrial matrix and exit of ATP out of the mitochondria.

Question 2

Which of the following amino acids is strictly glycogenic?

a. Leucine
b. Lysine
c. Phenylalanine
d. Tryptophan
e. Alanine

Answer 2

E. Alanine

Purely ketogenic: Leucine, Lysine
Both: Phe, Tyr, Iso, Tryptophan

Question 3

Newborn fed with water with table sugar presented with vomiting, and seizures. HGT noted profound hypoglycemia. What is the diagnosis?

Answer 3

Aldolase B deficiency

Hereditary Fructose intolerance

Question 4

What substance is involved in the pathophysiology of DKA?

Answer 4

Acetoacetate

B-hydrobutyric acid

Question 5

The rate limiting enzyme in fatty acid synthesis.

Answer 5

Acetyl Coa carboxylase

Question 6

Pediatric patient has mental retardation, noted cherry red spot on macula and Traube space is not bilateral. What particular inborn error of metabolism and enzyme deficient?

Answer 6

Diagnosis: Tay-Sachs disease
Deficiency: Hexosaminidase A

Question 7

Apolipoprotein found in chylomicrons.

Answer 7

Apo B48

Apo B100: VLDL/LDL
Apo CII: activates LPL
Apo E: remnants
ApoA1: activates LCAT

Question 8

Urea cycle disorder triad.

Answer 8

• Hyperammonemia
• Encepalopathy
• Respiratory Alkalosis

Question 9

It is a dyslipoprotenemia characterized by slow clearance of chylomicron and VLDL, with low levels of LDL and HDL, and is associated with no increased risk of CAD.

Answer 9

Type 1 or Familial LPL deficiency

Question 10

Branched chain amino acids.

Answer 10

Isoleucine, Leucine, Valine