Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
PKU; Neonatal phenylketonuria
Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on a nonworking copy of the gene in order for a baby to have the condition.
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down the essential amino acid phenylalanine. Phenylalanine is found in foods that contain protein.
Without the enzyme, levels of phenylalanine build up in the body. This buildup can harm the central nervous system and cause brain damage.
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
Delayed mental and social skills
Head size much smaller than normal
Jerking movements of the arms or legs
If PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a "mousy" or "musty" odor. This odor is due to a buildup of phenylalanine substances in the body.
Exams and Tests
PKU can be easily detected with a simple blood test. All states in the United States require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.
If the screening test is positive, further blood and urine tests are required to confirm the diagnosis. Genetic testing is also done.
PKU is a treatable disease. Treatment involves a diet that is very low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health than those who don't stay on it. "Diet for life" has become the standard most experts recommend. It is especially important for women who have PKU to follow the diet before conception and throughout pregnancy.
There are large amounts of phenylalanine in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.
There are several special formulas made for infants with PKU. These can be used as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids. Older children and adults use a different formula that provides protein in the amounts they need. People with PKU need to take formula every day for their entire life.
Taking supplements such as fish oil to replace the long chain fatty acids missing from a standard phenylalanine-free diet may help improve neurologic development, including fine motor coordination. Other specific supplements, such as iron or carnitine, may also be needed.
The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.
If proteins containing phenylalanine are not avoided, PKU can lead to mental disability by the end of the first year of life.
Severe mental disability occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appears to be a common problem in those who do not stick to a very low-phenylalanine diet.
When to Contact a Medical Professional
Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder.
An enzyme assay or genetic testing can determine if parents carry the gene for PKU. Chorionic villus sampling or amniocentesis can be done during pregnancy to screen the unborn baby for PKU.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy. Buildup of phenylalanine will damage the developing baby, even if the child has not inherited the defective gene.
American Dietetic Association. Providing nutrition services for infants, children, and adults with developmental disabilities and special health care needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107.
Beblo S. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr. May 2007; 150(5): 479-84.
Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79.
Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71.
Rezvani I, Melvin JJ. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 79.
Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166.
Vockley J, Andersson HC, Antshel KM et al, Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genetics in Medicine. 2014; 16(2): 188-200.
Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr. Feb 2004; 144(2); 1A.
Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6); A3.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.