PKU A Genetic Disorder

Your newborn seems perfect. She's got 10 fingers and toes and already has hearty appetite. But even healthy-looking babies can have problems you can't see. A simple blood test looks for rare conditions, including phenyketonuria (PKU), which can harm your baby's growing brain. PKU is a rare genetic condition that affects metabolism -- the way your body turns food into energy. Babies with PKU can't make an enzyme needed to break down phenylalanine (Phe) -- an amino acid found in protein. Amino acids regulate almost all of the metabolic processes in the human body. If Phe builds up in the blood, it causes damage. There's no cure. But with treatment, your baby can grow into a healthy adult. If your baby is premature, she might get what's called a "false positive" because the enzyme to break down Phe hasn't developed fully yet. She could get a "false negative" if she isn't eating (either breastfed or bottle-fed), is throwing up, or if the test was done too soon she was born. If PKU isn't diagnosed and treated right away, it can cause lasting problems including: - Developmental delays - Lower IQ - Mood disorders - Hyperactivity - Severe intellectual disability If your chill has PSU, she needs to be on a special, lifelong diet that's low in Phe. You should start her on it as soon as possible, ideally within a week or 10 days of birth