Doctors for Alkaptonuria in Handa Nursing Home, Delhi
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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?
If the diagnosis of Alkaptonuria is suspected, it can be confirmed by collecting urine for 24 hours.
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.