If you have PKU, you must follow a strict low-Phenylalanine diet both before becoming pregnant and during the pregnancy. The U. Food and Drug Administration has approved the medicine sapropterin dihydrochloride brand name: Kuvan for the treatment of PKU. Kuvan can help the body break down phenylalanine.
However, the medicine only helps some people. Those taking the medicine must still follow a low-phenylalanine diet. A special daily formula can help ensure those with PKU get proper nutrition. Taking supplements may also be necessary.
For example, fish oil can replace some of the fatty acids the basic building blocks of lipids, or fats missing from the standard PKU diet.
Those fatty acids can help improve neurological development. Each person with PKU has a different level of phenylalanine they can tolerate. If you have PKU, you must work closely with your doctor to develop your individual diet. You need to eat enough phenylalanine for healthy growth and development. Going to the doctor often, and getting regular blood tests, helps keep everything in check.
The PKU diet is very restrictive. But it must be followed. Babies who start the diet soon after birth usually develop normally. Many show no symptoms of PKU.
Support from friends and family or a PKU support group can be helpful when facing the challenges that come with this diet. This article was contributed by: familydoctor. This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.
Your newborn will go through screening tests at the hospital. The purpose is to find and treat certain health…. Visit The Symptom Checker. Read More. Fever in Infants and Children. Vomiting and Diarrhea. Table of Contents. A defective gene genetic mutation causes PKU, which can be mild, moderate or severe.
In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine, an amino acid.
A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain. For a child to inherit PKU, both the mother and father must have and pass on the defective gene.
This pattern of inheritance is called autosomal recessive. It's possible for a parent to be a carrier — to have the defective gene that causes PKU, but not have the disease. If only one parent has the defective gene, there's no risk of passing PKU to a child, but it's possible for the child to be a carrier. Most often, PKU is passed to children by two parents who are carriers of the disorder, but don't know it.
Untreated PKU can lead to complications in infants, children and adults with the disorder. When mothers with PKU have high blood phenylalanine levels during pregnancy, fetal birth defects or miscarriage can occur.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Phenylketonuria fen-ul-key-toe-NU-ree-uh , also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. Email address. First Name let us know your preferred name.
Last Name. Thank you for subscribing Your in-depth digestive health guide will be in your inbox shortly. Sorry something went wrong with your subscription Please, try again in a couple of minutes Retry. Request an Appointment at Mayo Clinic. Autosomal recessive inheritance pattern Open pop-up dialog box Close. The diet should be followed carefully and be started as soon after birth as possible. In the past, experts believed that it was safe for people to stop following the diet as they got older.
However, they now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health. It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout her pregnancy to ensure the healthy development of her infant.
People with PKU also need to avoid the sweetener aspartame, which is in some foods, drinks, medications, and vitamins. Aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person's blood.
Often, people with PKU also have to limit their intake of lower-protein foods, such as certain fruits and vegetables. However, a PKU diet can include low-protein noodles and other special products. The amount of phenylalanine that is safe to consume differs for each person. Therefore, a person with PKU needs to work with a health care professional to develop an individualized diet. The goal is to eat only the amount of phenylalanine necessary for healthy growth and body processes but not any extra.
Frequent blood tests and doctor visits are necessary to help determine how well the diet is working. Some relaxation of the diet may be possible as a child gets older, but the recommendation today is lifelong adherence to the diet.
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