Most pregnant and parenting people who have PKU can have healthy pregnancies and healthy babies. The medicine is more likely to work in people with mild or special forms of PKU. They still need regular blood tests to check phenylalanine levels. See also: Genetic counseling , Newborn screening. Get expert tips and resources from March of Dimes and CDC to increase your chance of having a healthy, fully-term pregnancy and baby. March of Dimes leads the fight for the health of all moms and babies.
We support research, lead programs and provide education and advocacy so that every family can have the best possible start. Building on a successful year legacy, we support every pregnant person and every family.
March of Dimes, a not-for-profit, section c 3. Privacy, Terms, and Notices , Cookie Settings. Register Sign In. Hi Your dashboard sign out. Need help? Frequently asked questions Contact us. Baby Caring for your baby Feeding your baby. Ambassadors Ambassadors Celebrity Advocate Council. Mission stories Spotlights Impact Stories. PKU Phenylketonuria in your baby. E-mail to a friend Please fill in all fields.
Please enter a valid e-mail address. Thank you! Your e-mail was sent. Genetics Home Reference has merged with MedlinePlus. Learn more. 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. From Genetics Home Reference. Description Phenylketonuria commonly known as PKU is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Frequency The occurrence of PKU varies among ethnic groups and geographic regions worldwide. Causes Mutations in the PAH gene cause phenylketonuria. Learn more about the gene associated with Phenylketonuria PAH. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Research Studies from ClinicalTrials. References Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat. Epub Mar Citation on PubMed Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr. The Maternal Phenylketonuria Project: a summary of progress and challenges for the future. Management of phenylketonuria and hyperphenylalaninemia. 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.
A child with phenylketonuria will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they're responding to treatment. Only a drop of blood is needed, and it can be collected at home and sent to the hospital by post.
You may be able to have training so you can do your child's blood tests, or be able to test yourself if you have PKU. This will make testing more convenient. The genetic cause mutation responsible for PKU is passed on by the parents, who are usually carriers and do not have any symptoms of the condition themselves. The way this mutation is passed on is known as autosomal recessive inheritance. 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.
0コメント