Patient's question:
My uncle said that recently when he urinated, his bladder was very painful, and the color of his urine was a bit yellow. He also experienced blood in his urine a few weeks ago. Later, he went to the hospital for a check-up, and the doctor said that he had dicarboxyl amino aciduria.Doctor's answer:
Hello, the cause of dicarboxyl amino aciduria: This condition is due to hereditary membrane transport defects, leading to an increased excretion of amino acids in the urine. The occurrence of this disease is a consequence of membrane carrier changes resulting from autosomal recessive inheritance. Under normal conditions, amino acids filtered by the glomerulus are almost entirely reabsorbed in the proximal renal tubules through a specific energy transport process. In congenital amino acid metabolic disorders, amino acids that are not properly metabolized accumulate in the plasma and appear in the urine, which is due to increased ultrafiltration load, not renal tubular transport defects.