Living With Conditions Family Experiences

PKU - Molly's Story

This story is told by an eight-year-old who was diagnosed with Phenylketonuria (PKU) through newborn screening. PKU is a rare metabolic disorder that affects approximately 1 in 20,000 newborns. People with PKU lack an enzyme in the liver that breaks down phenylalanine, an essential amino acid in proteins. Without being on a highly restricted diet, this amino acid builds up in the blood and causes severe brain damage. The diet does not involve simply being a vegan. Grains, beans and soy are high in protein and cannot be eaten. Protein, and therefore phenylalanine, is in everything except water, sugar, oil, vinegar and pure starches. Fruits and vegetables are allowed in the PKU diet, but only in measured amounts. As there are no grains permitted, baked goods are made with fragile starches instead.