This is a disease that heralds the early onset of osteoporosis and is usually caused due to lack of the HGD enzyme, also known as the homogentisate dioxygenase enzyme. This causes long term damage to the cartilage and may even cause Valvular Heart Disease, kidney stones, and arthritis. The symptoms of this disease typically include discoloration of urine and sweat, as well as weak and brittle bones.
HOW IS ALKAPTONURIA DIAGNOSED?
Diagnosis of Alkaptonuria may be done by General Physician through following ways: • Urine test • Testing for osteoarthritis • Gas chromatography • Check family history
HOW IS ALKAPTONURIA TREATED?
There is no specific treatment for Alkaptonuria. There are other treatments that focus on preventing and relieving complication like arthritis, heart disease and kidney stones. High doses of vitamin C are generally prescribed. Research studies have suggested Nitisinone to be effective in the treatment of alkaptonuria. Medication may be advised for pain in joints. A surgery may be required for shoulder, knee replacement by the age of 50-60 years. Occupational therapy may help maintain flexibility and strength in muscles and joints.
DID YOU KNOW?
Alkaptonuria has other names: • Alkaptonuria • Homogentisic acid oxidase deficiency • Homogentisic aciduria • Black bone disease • Black urine disease. Most of the people with alkaptonuria live normal lives. In many cases the symptoms are not present till the age of 40’s.