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Question

How phenylketonuria is caused? Mention its symptoms.

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Solution

  • The inborn error of metabolism is also inherited as the autosomal recessive trait.
  • The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine.
  • Accumulation of these in brain results in mental retardation.
  • Symptoms include short stature, slow growth, body odor, loss of skin color.

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