Phenylketonuria (original) (raw)

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Summary

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.

The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas, and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.

Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.

NIH: National Institute of Child Health and Human Development

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• About Phenylketonuria (PKU) (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

• Phenylketonuria (Mayo Foundation for Medical Education and Research) Also in Spanish

• PKU (Phenylketonuria) in Your Baby (March of Dimes Foundation) Also in Spanish

• What Are Common Symptoms of Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

• What Are Common Treatments for Phenylketonuria (PKU)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

• Sugar Substitutes (American Academy of Family Physicians) Also in Spanish

• ClinicalTrials.gov: Phenylketonurias (National Institutes of Health)

• Phenylketonuria (Medical Encyclopedia) Also in Spanish

• Serum phenylalanine screening (Medical Encyclopedia) Also in Spanish