Symptoms of PKU in Children #pku #developmentaldelay #shorts #podcast #raredisease
Dan Ellmer, who was diagnosed with the rare inherited metabolic disorder phenylketonuria (#PKU) as a child. He shares his remarkable story of living with this condition that causes intellectual disability if undiagnosed. Dan explains what PKU is, how it's screened for at birth in some countries, why early diagnosis is critical, and how the required life-long low protein diet keeps symptoms at bay. We discuss the devastating effects of untreated PKU, including its impact on cognitive ability and quality of life. Dan also elaborates on the challenges of affording expensive PKU supplements and restricted food options. He stresses the importance of raising global PKU awareness so patients outside the US and UK can access vital treatment.
