Question

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

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.