PKU (phenylketonuria) is genetic disorder that impairs the body’s ability to break down phenylalanine (Phe) one of the building blocks of protein, Untreated patients develop severe mental handicaps and behavioral problems.
The condition is usually treated by restricting Phe in the diet beginning at birth, but this requires the use of specialized medical foods to obtain enough other amino acids to maintain normal growth and development. As a result, most patient have blood Phe levels in the untreated range as they reach adolescence and adulthood, accompanied by a variety of neuropsychiatric problems. Currently, there are some management strategies for those with PKU syndrome to lower the amount of Phe in the blood through strict diet management and/or drug interventions to increase enzyme activity.
Our research in PKU syndrome includes monitoring the natural progression of the disease, developing new techniques for testing, as well as medication and surgical interventions to increase patient quality of life. We have also developed a technique to isolate healthy liver cells (hepatocytes) from organs that are not suitable for transplant, and give them to patients, allowing the normal cells to live in the patient’s existing liver. We are studying the use of this technique, known as hepatocyte transplant, to treat patients with PKU as an alternative to diet, available medications, or liver transplant.
Jerry Vockley, MD, PhD