PKU (Phenylketonuria)


PKU is the failure to develop in infancy. This genetic disorder is very rare as it only has had 20.000 cases every year in the U.S. A birth defect that causes an amino acid called phenylalanine to build up in the body. This genetic disorder is autosomal recessive.

Interesting Facts

1. PKU is a genetic disorder that is most commonly found in males

2. 60-75% of normal protein must be taken from foods that are eaten and replaced with medical foods.

Defects & Symptoms


  1. defective form of enzyme phenylalaine hydroxylase
  2. defects in metabolism of amino acids
Symptoms/ Affects

  • Developmental delays
  • Heart defects are especially common in babies with mothers that have PKU
  • Autism
  • Intellectual Disability
  • Very small head size
  • Behavior problems
  • Seizures
  • Eczema
  • Low birth weight
  • Delayed physical growth