In most cases, PKU is caused by changes (pathogenic variants, also called mutations ) in the PAH gene. Inheritance is autosomal recessive manner. Because PKU can be detected by a simple blood test and is treatable, PKU is part of newborn screening .
Phenylketonuria or PKU is a rare metabolic disease that can lead to severe brain disorders caused by the accumulation of the amino acid phenylalanine to toxic levels in the blood and brain.
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care
As infants, Chase Herndon and Gordon Lester were diagnosed with phenylketonuria (PKU), a rare genetic disorder that causes an inability to break down the amino acid phenylalanine. Because phenylalanine is present in all forms of protein, PKU patients must follow a restricted diet extremely low in protein -- which can make everyday life a little more difficult than for the average person.