When do pku symptoms start

Please sign in or sign up for a March of Dimes account to proceed. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems. The illness happens in all ethnic groups. PKU is inherited. Genes come in pairs—you get one of each pair from each parent. Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children.

Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. A birth defect is a health condition that is present in a baby at birth.

When this happens, your baby is called a PKU carrier. Finding PKU early helps doctors treat it so babies can grow up healthy. Before your baby leaves the hospital, their health care provider takes a few drops of blood from their heel. The blood is collected on a special paper and sent to a lab for testing. This test can check to see if your baby has PKU or if there is another cause for abnormal test results.

Some experts recommend that if your baby was tested within the first 24 hours of life, they should be tested again at 1 to 2 weeks of age. Babies who have PKU seem normal for the first few months of life. But without treatment, they begin to show signs and symptoms of the illness at about 6 months of age. These include:. If your baby has PKU, they may need testing as often as once a week or more often for the first year of life to check their phenylalanine levels.

Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body. People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain.

This can lead to brain damage. At around 5 days old, babies are offered newborn blood spot screening to test for PKU and many other conditions. This involves pricking your baby's heel to collect drops of blood to test. If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications.

Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives. Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. The main treatment for PKU is a low-protein diet that completely avoids high-protein foods such as meat, eggs and dairy products and controls the intake of many other foods, such as potatoes and cereals.

In addition, people with PKU must take an amino acid supplement to ensure they're getting all the nutrients required for normal growth and good health. There are also several low-protein versions of common foods such as flour, rice and pasta specifically designed for people with PKU and related conditions to incorporate into their diets. Many of these are available on prescription. If a high phenylalanine level is confirmed, a baby will immediately be started on a low-protein diet and amino acid supplements.

Phenylalanine levels are regularly monitored by collecting blood from a finger prick on to a special card and sending it to a laboratory. A dietitian will create a detailed dietary plan for your child that can be revised as your child grows and their needs change.

As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they'll remain well and their natural intelligence will be unaffected. People with PKU must also avoid food products that contain aspartame, as it's converted into phenylalanine in the body. It's a legal requirement for any medicine that contains aspartame to state it on the patient information leaflet that comes with the medicine. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

Updated visitor guidelines. Top of the page. What causes PKU? What are the symptoms? Early symptoms of PKU in a baby may include: A musty odor to the skin, hair, and urine. Skin problems. Being sensitive to light. How is PKU diagnosed? What treatment do children with PKU need? What treatment do adults with PKU need? References Citations U. Preventive Services Task Force Screening for phenylketonuria PKU.

Other Works Consulted Aminoff M Neurologic disorders. In RK Creasy et al. Philadelphia: Saunders. Committee on Genetics, American Academy of Pediatrics Maternal phenylketonuria. Pediatrics, 2 : — Durkin MS, et al. Childhood cognitive disability. In RB Wallace et al. New York: McGraw-Hill. Feillet F, et al. Challenges and pitfalls in the management of phenylketonuria.

Kaye CI , reaffirmed Newborn screening fact sheets. Pediatrics, 3 : e—e