Alkaptonuria causes, genetics, symptoms, diagnosis & alkaptonuria treatment
Alkaptonuria causes, genetics, symptoms, diagnosis & alkaptonu…
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How do you turn a weed killer into a life-changing treatment for a rare disease? In this episode of #EurordisRareOnAir, host Julien Poulain speaks with Nick Sireau, a dedicated patient advocate, CEO of the AKU Society, and father to two sons with Alkaptonuria. Nick shares his journey from his son’s unexpected diagnosis to becoming a leader in drug repurposing, helping to transform an unlikely chemical into an approved therapy for his son's rare condition. Hear Nick’s reflections on the opportuni
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It’s a skin condition, usually linked to long-term use of skin lightening products containing hydroquinone or sometimes from certain medical conditions. 🔹 Types of Ochronosis \t1.\tExogenous Ochronosis – caused by external factors, especially prolonged use of creams with hydroquinone, phenol, or resorcinol. \t2.\tEndogenous Ochronosis – a rare genetic disorder (Alkaptonuria) where the body can’t break down certain amino acids, leading to pigment buildup in tissues. 🔹 What It Looks Like \t•\tBl
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