Try it
Biochemistry · Lipid metabolism: beta oxidation
Sample itemWhich finding is expected in medium-chain acyl-CoA dehydrogenase deficiency during fasting?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Hypoketotic hypoglycemia
MCAD deficiency prevents adequate beta oxidation of medium-chain fatty acids during fasting, limiting ATP and ketone production. Children can develop hypoketotic hypoglycemia and encephalopathy.
Option by option
A. Isolated hyperbilirubinemia
Bilirubin elevation alone does not describe this metabolic crisis.
B. Marked ketoacidosis with high ketones
High ketones would be expected when fatty-acid oxidation is functioning.
C. Hypoketotic hypoglycemia (correct)
Correct. Inability to generate ketones during fasting is the key clue.
D. Hyperglycemia with glucosuria
Glucosuria is not the typical defect.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
More Biochemistry questions
- Nucleotide metabolismA 4-year-old boy has intellectual disability, dystonia, self-mutilation and hyperuricaem…
- VitaminsA patient with megaloblastic anaemia and mild neurological signs has raised serum methyl…
- Amino acid metabolismA baby has a mousy odour, fair skin and developmental delay. Which enzyme is deficient?
- Glycogen storage diseasesA child has severe fasting hypoglycaemia, hepatomegaly, lactic acidosis and hyperuricaem…