Why does pku make you sick
Cambrooke Foods. Taste Connections. National Food Distribution Center. Ener-G Foods. Nutricia North America. General PKU Websites. PKU News. PKU Board - World wide forum. Cook for Love. Low protein recipes. How much Phe? Formula companies. Cambrooke Therapeutics. Mead Johnson. Abbott Nutritionals. Metabolinks Newsletter. February August September October Useful Resources. Sick Day guidelines for PKU. Metabolic Diet App. PKU and constipation. What can I eat - Meal ideas. PKU Diet and Protein.
Enter the name for this tabbed section: Late treated PKU. What is late-treated PKU? People with PKU who were born prior to the introduction of newborn screening may remain undiagnosed, and may have never tried the PKU diet.
These patients are usually cognitively impaired and often suffer effects from brain damage caused by high phe levels. Ideally treatment for PKU should begin at birth in order to prevent these effects. People with PKU born prior to the introduction of newborn screening may remain undiagnosed. However, such people, even if severely cognitively impaired, benefit from treatment.
These benefits include improved seizure control, improvement in self-abusive behaviours, reduction in symptoms of chronic anxiety, improved socialization behaviours, fewer headaches and skin rashes.
Treating these people may mean that less intensive supervision is needed, and their quality of life may be improved.
They may also be able to reduce or eliminate the need to take medications for behaviour problems. PKU results in progressive brain damage, even in adults. Therefore, treatment of people with PKU is now recommended for life, to prevent ongoing neurological injury. If I know someone who is developmentally disabled and suspect they might have PKU, how can they be tested? An elevated blood phenylalanine level would confirm the diagnosis of PKU.
A level in the normal range rules out this diagnosis. If the patient has PKU they can be referred to our clinic for treatment. PKU education presentation. Enter the name for this tabbed section: Maternal PKU.
Think you might be pregnant? If you think you might be pregnant: 1. Info on pregnancy test. What is Maternal PKU? If a woman with PKU does not control her blood PHE levels during her pregnancy it can cause damage to her developing baby.
When a woman becomes pregnant, she supports her baby by sharing nutrients from her diet, as well as oxygen through the placenta and the umbilical cord. Phenylalanine, like other amino acids, can cross the placenta to the baby.
It is important to stay on the diet for the rest of your life. 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 Also called: PKU. See, Play and Learn Videos and Tutorials. Research Clinical Trials Journal Articles. Resources Find an Expert. For You Patient Handouts. Start Here. Diagnosis and Tests.
Treatments and Therapies. This means a baby needs to receive 2 copies of the mutated gene to develop the condition — 1 from their mother and 1 from their father. If you're a carrier of the altered gene and you have a baby with a partner who's also a carrier, your baby has:.
Many adults with PKU find they function best while on a low-protein diet. The current advice is for people with PKU to remain on a low-protein diet for life.
Unlike in young children, there is not yet any evidence that high phenylalanine levels cause any permanent brain damage in adults with PKU. 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.
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