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Phenylketonuria also known as PKU is an inherited birth defect that causes phenylalanine to build up in the body that causes brain and nerve damage if untreated. All states in the United States require a PKU screening test for all newborns. The test is done by taking a few drops of blood from the baby before the baby leaves the hospital.The birth defect is very rare and there are fewer than 20,000 cases each year. Phenylketonuria can last for years, or for a lifetime. As of right now, there is no cure but there are treatments out there that may help (strict diet). People with the birth defect must avoid high protein foods such as milk and cheese, eggs, nuts, soybeans, beans, chicken, beef, pork, fish, peas, and beer because their body cannot digest/break down the food. They must follow a low protein diet. The FDA approved a drug called Sapropterin Dihydrochloride (Kuvan). It is a form of BH4, and it helps break down Phenylalanine. Phenylalanine plays a role in the body's production of melanin, which is the pigment responsible for the color of skin and hair. Therefore, infants with the condition often have lighter skin, hair, and eyes than their other siblings without the disease. Other symptoms may include the delay of mental and social skills, their head size is much smaller than normal, hyperactivity, jerking movements of the arms or legs, mental disabilities, seizures, skin rashes, and tremors.

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Amazing Unidad de dolor del Hospital Sant Joan de DÃ

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Almost 50 years after newborns in the United States started being tested for PKU, a genetic disorder that requires a special diet, no one knows how many of those babies are still on a restricted diet as adults. It's a critical question for pregnant women who were born with PKU.