**Core Concept**
Isovaleric academia is a rare metabolic disorder characterized by the accumulation of isovaleric acid in the body due to a defect in the breakdown of leucine, a branched-chain amino acid. This condition is classified as a disorder of amino acid metabolism, specifically a defect in the leucine catabolic pathway.
**Why the Correct Answer is Right**
The correct answer is a deficiency of isovaleryl-CoA dehydrogenase (IVD), an enzyme that catalyzes the second step in the breakdown of leucine. Without this enzyme, the body is unable to convert isovaleryl-CoA to 3-methylcrotonyl-CoA, leading to the accumulation of isovaleric acid. This accumulation can cause a range of symptoms, including vomiting, seizures, and respiratory distress.
**Why Each Wrong Option is Incorrect**
**Option A:** A deficiency of branched-chain alpha-keto acid dehydrogenase (BCKAD) is actually associated with maple syrup urine disease, a different disorder of amino acid metabolism.
**Option B:** A deficiency of glutaryl-CoA dehydrogenase is associated with glutaric acidemia type I, another disorder of amino acid metabolism.
**Option C:** A deficiency of carnitine palmityltransferase II is associated with a disorder of fatty acid oxidation, not isovaleric academia.
**Clinical Pearl / High-Yield Fact**
Isovaleric academia is often caused by mutations in the IVD gene, which can be inherited in an autosomal recessive pattern. Early diagnosis and treatment with glycine or sodium benzoate can help manage the condition and prevent long-term complications.
**Correct Answer: C. Isovaleryl-CoA dehydrogenase (IVD) deficiency.**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.