This is because a special diet can ensure that the disease does not cause any complications. If you have a family history of PKU or are of European, Turkish, or Native American descent, you may want to consider talking to a genetic counselor about genetic testing.
The test can determine whether you are a carrier of the disease and your risk, if any, of transmitting it to the next generation. The counselor can discuss the pros and cons of the genetic test, and examine your family history to determine who else might need the test. If you know you are a carrier of PKU, you should talk to your partner about getting tested before trying to start a family.
If they are not a carrier, your children will not inherit the disease, though they may be carriers. However, if you and your partner are both carriers or one of you is a carrier and one of you has PKU , you may want to talk with a genetic counselor about alternate reproductive technologies such as in vitro fertilization with pre-implantation genetic diagnosis. Phenylketonuria News is strictly a news and information website about the disease.
It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Vote count: 1. A special medical food that contains other amino acids but no phenylalanine is a critical part of the PKU diet. Some children with PKU who are on a diet may benefit from a medication form of BH4, called Kuvan, which can lower phenylalanine levels in the blood, and may allow a patient to eat more natural sources or protein. Your child might be prescribed Kuvan to determine if it will make the diet easier.
PKU is present in almost all societies but is very rare among those of African-American heritage and certain Asian countries e. Those of Irish heritage as well as those with Turkish background have the highest risk..
Before signs are apparent, however, the brain may already be damaged, so treatment needs to begin during the first weeks of life before this happens Symptoms of PKU can include:. If treatment is administered within the first few weeks after birth, there should be no symptoms if the diet that is prescribed is strictly followed. Symptoms might develop if the patient stops following the diet. A: PKU is very serious if treatment is not started for within the first 2 to 3 weeks of life.
Although symptoms may not be visible, exposure to high levels of phenylalanine after 2 to 3 weeks can have long lasting negative effects such as intellectual challenges.
Untreated PKU can lead to intellectual disabilities. If PKU is treated right away and your child strictly follows the prescribed low-phenylalanine diet, your child should enjoy a normal quality of life. A: If a woman with PKU is not following a strict low phenylalanine diet during pregnancy, her baby may suffer from intellectual disabilities, heart defects and a small head microcephaly , even though her baby may not inherit PKU. Women looking to become mothers should follow a low-phenylalanine diet beginning before pregnancy to prevent their baby from suffering from PKU in the mother.
A: The main treatment for PKU is following a strict diet that eliminates high protein food such as, meat and dairy products and introduces a special formula. We will work with you and your child to establish a diet he can be on for life. A: If your child follows the diet correctly to get all the nutrients he needs, there should not be any side effects. A: The answer depends on who your child has a baby with. PKU is a recessive disease, meaning that the child with PKU gets two abnormal genes, one from each parent.
Your in-depth digestive health guide will be in your inbox shortly. You will also receive emails from Mayo Clinic on the latest health news, research, and care. To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.
These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition. 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.
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