Subtitle: Enzyme Deficiency in Alkaptonuria
Alkaptonuria is a rare genetic disorder that is caused by the deficiency of an enzyme called homogentisic acid oxidase (HGO). Without this enzyme, homogentisic acid (HGA) builds up in the body, leading to a variety of health problems. The accumulation of HGA in the body can lead to kidney stones, arthritis, hearing loss, and heart valve damage.
People with alkaptonuria usually develop symptoms in the early twenties or thirties. Symptoms of the disorder include dark urine, which is caused by the reaction of HGA and oxygen in the urine. Other symptoms include blue or gray discoloration of the skin and connective tissue, arthritis, heart problems, and hearing loss.
Treatment for alkaptonuria involves dietary management and medications to reduce the amount of HGA in the body. Dietary management involves avoiding foods that contain high amounts of tyrosine and phenylalanine, which are both precursors to HGA. Medications that can reduce the amount of HGA in the body include nitisinone, asparaginase, and D-penicillamine.
Alkaptonuria is a rare disorder, and it is difficult to diagnose. Therefore, it is important for people who are at risk for the disorder to get regular check-ups with their healthcare provider in order to detect any signs of the disorder early. Early detection and treatment can help reduce the risk of complications and improve quality of life.