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The earliest signs of alkaptonuria are often subtle and harmless, like a diaper stained black. However, over the years, this rare genetic disease can lead to a lifetime of surgery. Now, after 20 years of research, a not-so-new drug can offer relief for thousands of patients worldwide. The disease, also known as AKU, prevents the breakdown of a chemical called homogentisic acid in the body. The kidneys help to clear this chemical and get rid of it through urine. When exposed to the air, it turns black and this is how parents usually spot the first sign of the condition in children.

United statesUnited kingdomCity ofNick sireauLakshminarayan ranganathInternational rare diseases research consortiumNational institutes of healthEuropean medicines agencyRoyal liverpool university hospitalDrug administrationGreat ormond streetNational institutesProfessor lakshminarayan ranganathInternational rare diseases researchஒன்றுபட்டது மாநிலங்களில்ஒன்றுபட்டது கிஂக்டம்