No Protein Diet or My Brain Shuts Down: Surviving Metabolic Chaos
When Dan Elmer was diagnosed with phenylketonuria (PKU) as an infant in the late 1970s, newborn screening programs were just emerging. Without this early detection, Dan may have suffered severe and irreversible intellectual disability.
So what exactly is PKU and why is protein restriction so vital? Our recent podcast guest explains.
#What is PKU?
PKU is a rare inherited disorder that causes the amino acid phenylalanine to build up to toxic levels in the body. This is because people with PKU lack the enzyme needed to properly metabolize phenylalanine, an amino acid found in high-protein foods.
If PKU goes untreated, excess phenylalanine in the brain severely impairs cognitive development, leading to intellectual disability, seizures, delayed speech, anxiety, symptoms mimicking autism, and more.
#Catching PKU Early is Critical
When identified early through newborn blood spot screening, children with PKU can avoid cognitive damage through a strict lifelong low-protein diet combined with medical formula and supplements.
Dan was fortunate to be born in the UK just one decade after newborn PKU screening began there in 1969. Early diet therapy allowed him to live a normal childhood without developmental disability.
#The PKU Diet is Challenging But Essential
The PKU diet entails avoiding high protein foods like meat, dairy, nuts and legumes, while closely measuring allowance for moderate protein foods like fruits and vegetables. Despite supplements, this diet lacks certain nutrients, so vitamin deficiency is common.
Dan explains how complying fully with the PKU diet as an adult keeps his cognitive symptoms like brain fog, fatigue, poor concentration and mood instability at bay. When he eats too much protein, "it's like a real crash," he says.
#Affording PKU Treatment Presents Added Difficulty
In the UK Dan's PKU formula and special low-protein grocery items are covered, but he says his annual prescription bill would total around £60,000 without medical assistance. In countries lacking PKU screening and treatment programs this poses an impossible financial burden.
Dan now advocates tirelessly for global PKU awareness and resource allocation. As he compellingly argues, "I'm here by the grace of where I was born."
#Listen to Dan’s full PKU story
