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Exam questionKROK 1Medicine ยท 2015

A patient has been diagnosed with alkaptonuria. Choose an enzyme that can cause this pathology when deficient:

Answer options

  1. Glutamate dehydrogenase
  2. Dioxyphenylalanine decarboxylase
  3. Phenylalanine hydroxylase
  4. Homogentisic acid oxidase
  5. Pyruvate dehydrogenase
Correct answer

Homogentisic acid oxidase

Explanation

A patient has been diagnosed with alkaptonuria. Choose an enzyme that can cause this pathology when deficient: Alkaptonuria is caused by an inherited deficiency of the liver enzyme homogentisic acid deoxygenase. This leads to the accumulation of homogentisic acid, which is rapidly cleared in the kidney and excreted.

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