Vitamins & Minerals · NEET PG Preparation Biochemistry
A patient presents with megaloblastic anemia, but serum levels of folate and vitamin B12 are within normal limits. Further investigation reveals a ra…
Practice question from Vitamins & Minerals (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
hard · MCQ · Q-E66483
A patient presents with megaloblastic anemia, but serum levels of folate and vitamin B12 are within normal limits. Further investigation reveals a rare inborn error of metabolism affecting pyrimidine synthesis, specifically presenting with massive urinary excretion of orotic acid. This condition responds to administration of high doses of which of the following vitamins?
- A.Zinc
- B.CopperCorrect answer
- C.Iron
- D.Manganese
Solution
Menkes disease is an X-linked recessive disorder caused by mutations in the ATP7A gene, which encodes a copper-transporting P-type ATPase. This leads to copper deficiency in peripheral tissues, affecting copper-dependent enzymes like lysyl oxidase, cytochrome c oxidase, and tyrosinase, resulting in brittle 'steely' hair and severe neurodegeneration.
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