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Flashcards in Diagnostic Deck (10)
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1

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

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

2

Which of the following amino acids is strictly glycogenic?
a. Leucine
b. Lysine
c. Phenylalanine
d. Tryptophan
e. Alanine

E. Alanine

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

3

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

Aldolase B deficiency
Hereditary Fructose intolerance

4

What substance is involved in the pathophysiology of DKA?

Acetoacetate
B-hydrobutyric acid

5

The rate limiting enzyme in fatty acid synthesis.

Acetyl Coa carboxylase

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?

Diagnosis: Tay-Sachs disease
Deficiency: Hexosaminidase A

7

Apolipoprotein found in chylomicrons.

Apo B48

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

8

Urea cycle disorder triad.

* Hyperammonemia
* Encepalopathy
* Respiratory Alkalosis

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.

Type 1 or Familial LPL deficiency

10

Branched chain amino acids.

Isoleucine, Leucine, Valine