Question:

Match List I with List II
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Choose the correct answer from the options given below:

Show Hint

To remember galactosemia complications, think "Galactitol in the lens leads to Cataracts," which is a classic diagnostic feature of this enzyme deficiency in infants.
  • A ‐ II, B ‐ IV, C ‐ V, D ‐ III, E ‐ I
  • A ‐ III, B ‐ I, C ‐ II , D ‐ V, E ‐ IV
  • A ‐ IV, B ‐ V, C ‐ II, D ‐ I, E ‐ III
  • A ‐ V, B ‐ III, C ‐ I, D ‐ II, E ‐ IV
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The Correct Option is C

Solution and Explanation

Step 1: Understanding the Concept:
Metabolic diseases are inherited or acquired biochemical disorders characterized by disruptions in specific metabolic pathways.
These disruptions lead to the accumulation of toxic intermediates or a deficiency of essential products, resulting in characteristic clinical complications.

Step 2: Detailed Explanation:

Let us match each metabolic disease with its primary clinical complication:
- A. Diabetes Mellitus: A disorder of carbohydrate metabolism characterized by insulin deficiency or resistance.
Impaired glucose utilization leads to increased lipolysis, producing ketone bodies that can accumulate and cause diabetic Ketoacidosis (A - IV).
- B. Gout: A disorder of purine metabolism characterized by hyperuricemia.
Excess uric acid precipitates as monosodium urate crystals in the synovial fluid of joints, causing acute inflammatory arthritis (B - V).
- C. Phenylketonuria (PKU): An inborn error of phenylalanine metabolism caused by phenylalanine hydroxylase deficiency.
Accumulation of phenylalanine in the blood is neurotoxic, leading to severe Brain Damage and intellectual disability if untreated (C - II).
- D. Maple Syrup Urine Disease (MSUD): A deficiency in the branched-chain \(\alpha\)-keto acid dehydrogenase complex.
This leads to the accumulation of leucine, isoleucine, and valine, causing progressive Neurological impairment (D - I).
- E. Galactosemia: An inability to metabolize galactose.
Accumulation of galactose-1-phosphate and galactitol in the lens of the eye causes osmotic swelling and protein denaturation, leading to Cataract formation (E - III).
This matching corresponds to: A - IV, B - V, C - II, D - I, E - III.

Step 3: Final Answer:

The correct matching of metabolic diseases to their complications is A - IV, B - V, C - II, D - I, E - III.
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