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Which aminoaciduria translates to "alkali lover"? Which chemical accumulates in the blood, tissues, and urine?

Which aminoaciduria translates to "alkali lover"? Which chemical accumulates in the blood, tissues, and urine?
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Answer #1
  • Aminoaciduria is a condition in which abnormally increased concentration of amino acids are present in the urine.
  • There are many disorders which are collectively known as "Aminoacidurias".
  • The major disorders are phenylketonuria (PKU), tyrosyluria and alkaptonuria.
  • Alkaptonuria is the aminoaciduria which translates to "alkali lover".
  • This is because of the fact that the urine from patients with this condition turns dark after becoming alkaline from standing at room temperature.
  • Therefore, the term "alkali lover" or "alkaptonuria" was used to address the condition.
  • This condition arises from a metabolic defect which is the 3rd major defect in the phenylalanine-tyrosine pathway.
  • Due to this metabolic defect, the patient does not inherit the gene which is needed to produce the enzyme homogentisic acid oxidase.
  • Without the enzyme homogentisic acid oxidase, phenylalanine-tyrosine pathway is terminated before reaching completion.
  • Therefore, homogentisic acid is the chemical which accumulates in the blood, tissues, and urine.
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