Phenylketonuria (PKU)
PKU, which is short for phenylketonuria, is a lifelong genetic disorder in which a deficient enzyme prevents the body from metabolizing or breaking down one of the normal building
blocks of protein – an essential amino acid, called phenylalanine (Phe) which
is found in most foods including meat, bread, eggs, dairy, nuts, and some
fruits and vegetables. When left untreated, PKU patients who consume too much
Phe are at risk for severe neurological complications, including IQ loss,
memory loss, concentration problems, mood disorders, and in some cases, severe
mental retardation. PKU affects approximately
13,000 people in the U.S.
and 50,000 people worldwide.
Barbara
Burton, MD, director of the PKU and metabolic disease program and Lauren Leviton, education coordinator in the Division of Genetics, Birth
Defects and Metabolism lead the adult PKU outreach
program. Through the program, the team has been able to identify and treat
several adult PKU patients who have returned to treatment.
“It
is so important for adults with PKU to know that it is never too late to
address the disorder and resume treatment,” says Dr. Burton. “When PKU is no
longer managed, we start to see patients who suffer from mood and social
disorders. For adults, this can also impact their concentration at work,
stability in relationships and social interactions. As a healthcare provider, I
feel that it is our responsibility to educate adult PKU patients and offer
comprehensive medical care and social support systems.”
Other adverse affects
Studies also show that low bone density or osteopenia and the more
severe osteoporosis are more common among PKU patients when Phe levels are not
under control. In addition, high Phe
levels are extremely harmful in women during pregnancy so it is critical that women
who may want to have a family have their blood levels tightly controlled to
prevent birth defects.
New treatments
There are new dietary products and
formulas for patients with PKU. In addition, the FDA recently approved a
medication called sapropterin
dihydrochloride (KUVAN®) tablets. In clinical
trials, sapropterin
dihydrochloride has been shown to help control blood Phe levels in PKU patients. Many
of the adult patients, who have lost contact with their clinic because they
could not maintain the diet anymore, need to be aware that there are many more
options.
More information here »