Instead, the diet will probably include cereals, starches, fruits, a milk substitute, and other items with low or no Phe. Your child's health care provider may recommend one or more specialists and other resources to help you manage your baby's diet and keep your child healthy. There are also a variety of resources available to teens and adults with PKU. If you have PKU, talk to your health care provider about the best ways to take care of your dietary and health needs.
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Phenylketonuria PKU Screening. What is a PKU screening test? The test is easy, with virtually no health risk. There are specially-made formulas for infants with PKU.
What is it used for? Why does my baby need a PKU screening test? What happens during a PKU screening test? Will I need to do anything to prepare my baby for the test? There are no special preparations needed for a PKU test. Are there any risks to the test? What do the results mean? Is there anything else I need to know about a PKU screening test? 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. Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.
Share on: Facebook Twitter. Show references National Library of Medicine. Genetics Home Reference. Accessed Oct. National Organization for Rare Disorders. Learning about phenylketonuria PKU. National Human Genome Research Institute. Phenylketonuria PKU. Merck Manual Professional Version. Bodamer OA. Overview of phenylketonuria. Singh RH, et al. Some adults with PKU may have higher phenylalanine levels because they find it difficult to follow the low-protein diet or have returned to a normal diet.
As a result, they may find they do not function as well. For example, they may lose concentration or have a slower reaction time. These adverse effects can usually be reversed by going back on to a strict diet to bring the phenylalanine levels down again. Anyone who returned to a normal diet should still be supported by their clinicians and have a regular follow-up to monitor their condition for any complications that might arise.
For women with PKU, it's essential that they return to a strict diet if they're considering becoming pregnant, as high phenylalanine levels can harm an unborn child. Women with PKU must take particular care during pregnancy, as high levels of phenylalanine can damage their unborn baby. Provided that phenylalanine levels are strictly controlled during pregnancy, problems can be avoided and there's no reason why a woman with PKU should not be able to have a normal, healthy baby. It's recommended that all women with PKU plan their pregnancies carefully.
You should aim to follow a strict low-protein diet and monitor your blood twice a week before becoming pregnant. It's best to try to conceive once phenylalanine levels are within the target range for pregnancy. During pregnancy, you'll be asked to provide blood samples 3 times a week and will be in frequent contact with a dietitian. As soon as your baby is born, phenylalanine control can be relaxed and there's no reason why you cannot breastfeed your baby.
Contact your PKU doctor and dietitian as soon as possible if you become pregnant when your phenylalanine levels are not adequately controlled. If your phenylalanine levels can be brought under control within the first few weeks of your pregnancy, the risk of damage to your baby should be small.
But your pregnancy will need to be monitored very carefully. This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Page last reviewed: 03 December Next review due: 03 December Phenylketonuria PKU is a rare but potentially serious inherited disorder. Other symptoms of untreated PKU include: behavioural difficulties such as frequent temper tantrums and episodes of self-harm fairer skin, hair and eyes than siblings who do not have the condition phenylalanine is involved in the body's production of melanin, the pigment responsible for skin and hair colour eczema repeatably being sick jerking movements in arms and legs tremors epilepsy musty smell to the breath, skin and urine Treating PKU Diet 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.
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