Alkaptonuria, also known as black urine disease or black bone disease, is a rare inherited genetic disorder caused by a specific mutation in the HGD gene. Due to this disease, the body loses its capacity of processing amino acids phenylalanine and tyrosine. Alkaptonuria is asymptomatic in children or young adults. But the colour of their urine changes to brown or ink-black upon exposure to air. Other symptoms include pigmentation in the ear cartilage and sclera. In adults, pain in weight bearing joints of spine, hip and knee. Severe joint pains often require joint replacement. As the disease progresses, valvular heart disease may occur.
HOW IS ALKAPTONURIA DIAGNOSED?
The diagnosis done to detect this disorder are through tests which include chromatography, DNA testing to check mutated gene, details of family history, physical examination of eye and skin pigmentation, pain in joints and heart and development of stones in organs.
HOW IS ALKAPTONURIA TREATED?
There is no unanimous treatment for Alkaptonuria. However, the main treatments focus on the reduction of Homogentisic Acid by absorbing large doses of Herbicide Nitisinone or Vitamin C.
DID YOU KNOW?
Alkaptonuria occurs in one in 2, 50,000people, but is more common in Slovakia and the Dominican Republic.