Flashcards in Diagnostic Deck (10)
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.
Which of the following amino acids is strictly glycogenic?
Purely ketogenic: Leucine, Lysine
Both: Phe, Tyr, Iso, Tryptophan
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
What substance is involved in the pathophysiology of DKA?
The rate limiting enzyme in fatty acid synthesis.
Acetyl Coa carboxylase
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
Apolipoprotein found in chylomicrons.
Apo B100: VLDL/LDL
Apo CII: activates LPL
Apo E: remnants
ApoA1: activates LCAT
Urea cycle disorder triad.
* Respiratory Alkalosis
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