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.
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
- defective form of enzyme phenylalaine hydroxylase
- defects in metabolism of amino acids
- Developmental delays
- Heart defects are especially common in babies with mothers that have PKU
- Intellectual Disability
- Very small head size
- Behavior problems
- Low birth weight
- Delayed physical growth