What is phenylketonuria in urine?

If PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a “mousy” or “musty” odor. This odor is due to a buildup of phenylalanine substances in the body.

How does phenylketonuria affect the body?

Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life. Neurological problems such as seizures and tremors. Behavioral, emotional and social problems in older children and adults.

Why does phenylketonuria cause mousy odor?

Untreated infants with PKU tend to have unusually light eye, skin, and hair color due to high phenylalanine levels interfering with production of melanin, a substance that causes pigmentation. They may also have a musty or “mousy” body odor caused by phenyl acetic acid in the urine or sweat.

What does PKU smell like?

One of the unique features of PKU is a “mousy” or “musty” odor to the skin, hair, sweat and urine due to the elevated phenylalanine levels.

What is the life expectancy of a person with phenylketonuria?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet.

How do you test for phenylketonuria?

PKU is diagnosed with a blood test. In the United States and most other countries, a blood test is taken through a heel stick on newborn babies within 48 hours of birth. Further tests will be required to confirm the type of PKU and plan the best way of treating it.

What is the life expectancy of someone with phenylketonuria?

Is phenylketonuria more common in males or females?

Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.)

What organs are affected by phenylketonuria?

In a child with PKU, phenylalanine cannot be converted to tyrosine because the phenylalanine hydroxylase enzyme does not work properly. This results in dangerously high levels of phenylalanine that build up in the blood and become toxic to the brain and nervous system.

Does PKU shorten life expectancy?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states.

What gender is PKU most common in?

What happens if phenylketonuria is not treated?

Children with PKU who are not treated may develop symptoms including behavioral problems, seizures, and severe intellectual and developmental disabilities. Adults with PKU who do not follow a special diet may develop unstable moods2 and take longer to process information.