Phenylketonuria+(PKU)+-+Daniel+Patrick

Phenylketonuria (PKU) **Description: **PKU is a rare disease. Only 1 and 15,000 babies are born with it. If not treated quickly (right after birth) it can have a quick affect. This disease prevents you from breaking down any kind of protein. It is caused by a mutation in a gene on chromosome 12. PKU builds up and the blood and nerve cells are poisoned in the brain.

**Inheritance: ** This autosomal disease is inherited when both copies of the gene is carrying PKU.

**Punnett Square ****: **



**Symptoms: ** PKU doesn’t have symptoms at first, but when left untreated babies suffer severe brain damage. Then the brain damage causes epilepsy. Epilepsy causes behavioral problems and stunt growth of the baby.

**Diagnosis: ** PKU is diagnosed early, every baby in the U.S are always tested for it. Doctors take a small blood sample from the baby’s heel or arm. Then they check it in a laboratory.

**Treatment: ** People diagnosed with PKU have to have a protein free diet. Babies are given special formula with no protein. Anything with protein they cannot eat.

**Interesting Facts: ** media type="custom" key="9658672" A Norwegian doctor Asbjorn Folling discovered PKU in 1934. <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt;">1 in 15,000 babies are born with PKU.

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 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Support Groups: **<span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">National PKU Alliance.
 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Sources: **<span style="color: black; font-family: 'Arial','sans-serif'; font-size: 13px; line-height: 115%;">National PKU Alliance

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