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. PKUis caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. … See more Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKUwithin a few months. Signs … See more A gene change (genetic mutation) causes PKU, which can be mild, moderate or severe. In a person with PKU, a change in the phenylalanine hydroxylase (PAH) gene causes a lack of or … See more Untreated PKU can lead to complications in infants, children and adults with the disorder. When women with PKUhave high blood phenylalanine levels during pregnancy, it can harm their unborn baby. Untreated PKUcan … See more Risk factors for inheriting PKUinclude: 1. Having both parents with a gene change that causes PKU.Two parents must pass along a copy of the … See more WebPhenylketonuria is a hereditary metabolic disorder . Children with PKU are born without the enzyme needed to break down phenylalanine. Phenylalanine is an amino acid (the building blocks of proteins) in many foods and drinks. Normally, your body breaks down and gets rid of extra phenylalanine.

Phenylketonuria (PKU) (for Parents) - Nemours KidsHealth

WebMay 17, 2024 · If PKU is not detected early, increasing phenylalanine levels in the baby will cause intellectual disability. When discovered early, changes in the diet can help prevent the severe side effects of PKU. Normal Results A normal test result means that phenylalanine levels are normal and the child does not have PKU. WebSpecial phenylalanine-free formula Medications that contain a substance called BH 4 that helps the body process phenylalanine Children with non-PKU hyperphenylalaninemia have … gaming chair install

PHENYLALANINE - Uses, Side Effects, and More - WebMD

WebFor the rest of their lives, people with PKU — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. Newer medications may allow some people with PKU to eat a diet that has a higher or an unrestricted amount of phenylalanine. WebPhenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein. It's also important for brain growth. It's normally changed to tyrosine, which helps create all of the body's proteins. WebChildren and adults with this disorder should limit their intake of foods containing phenylalanine. This puts them at risk of tyrosine deficiency because the body does not convert... black hills children\u0027s home