Disease name: Alkaptonuria, also known as "black urine disease" Affected populations: The exact prevalence of alkaptonuria worldwide is unknown. However, estimates suggest that the disease affects ...

Alkaptonuria is a rare genetic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. In an interview with HT Lifestyle, Dr Abhishek Agrawal, Consultant urologist ...

RA: What is Alkaptonuria and how does it affect patients? OT: Alkaptonuria (AKU) is a rare genetic disease that causes early-onset, severe osteoarthritis. It was discovered more than 100 years ago ...

The drug, called nitisinone, is currently used to treat two genetic conditions: tyrosinemia type 1 and alkaptonuria. The drug works by inhibiting an enzyme called 4-hydroxyphenylpyruvate ...

However, many individuals with alkaptonuria may not experience other symptoms until later in life. The buildup of homogentisic acid over decades leads to a condition called ochronosis, where the ...