Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine.

Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.

A genetic mutation causes phenylketonuria. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process an amino acid called phenylalanine. A dangerous buildup of phenylalanine can develop when a person with PKU eats foods that are high in protein, such as milk, cheese, nuts or meat.

Information on Phenylketonuria (PKU). Includes topic overview and related information.

Phenylketonuria (PKU) . Multimedia health information for patients, caregivers and providers supplied by Harvard Medical School.

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. Learn more here.

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

Phenylketonuria (PKU) - Learn about symptoms and treatment (including a PKU diet) of this rare inherited disorder.

Wikipedia's information about phenylketonuria.

Learn what PKU is and how you can help to manage it.

Find information on phenylketonuria causes, symptoms, diagnosis, and treatment.

Phenylketonuria (PKU), an inherited disorder in which signs and symptoms vary from mild to severe such as seizures, developmental delay, behavioral problems, and psychiatric disorders.

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. Phenylalanine is a natural substance; it is a building block of protein. PKU is looked for in all newborns in the United Kingdom by measuring phenylalanine levels in the heel-prick blood test. All babies should have this test as it allows treatment to start early in life.

phenylketonuria (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase).

Phenylketonuria (PKU) is a rare genetic condition that's present from birth (congenital). The body is unable to break down a substance called phenylalanine.