When should a baby be tested for PKU?

Why do you think a baby is not tested for phenylketonuria immediately after it is born?

A test for phenylketonuria (PKU) is commonly done in a lot of countries. It's included in the baby's newborn screening panel. About the only reason for not testing for PKU is lack of resources of those providing care in the country, community or at the location of the baby's birth.

Why is PKU not tested in Finland?

Because of it's rarity. In the world 1 out of 25 000 is affected by PKU. In the States, 1 out of 15 000 is affected, Turkey 1 out of 2 300. In Finland, however, only one out of 100 000 has PKU. When the chances for the child are 0,00001% to have PKU, it's not routinely tested on all infants. 20 out of 34 hospitals test for PKU, but most only if both parents are foreign and only three hospital test if one of the parent is foreign. None of them test PKU on every child.

What is a PKU screening?

Phenylketonuria (PKU) TestA phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. Phenylalanine is an amino acid that is needed for normal growth and development. If a baby's body does not have the enzyme that changes phenylalanine into another amino acid called tyrosine, the phenylalanine level builds up in the baby's blood and can cause brain damage, seizures, and intellectual disability.The damage caused by PKU can begin weeks after the baby has started drinking breast milk or formula. Babies with PKU need foods low in phenylalanine to prevent severe brain damage. Phenylalanine is found in most foods that have protein, such as milk, cheese, and meats.It is important to find this disease early. All babies in the United States and Canada are tested for PKU right after birth. Each year, about 250 US. children get PKU.1 PKU occurs more in whites and Native Americans and is less common in blacks, Hispanics, and Asians. To have the disease, you must inherit the gene from each parent. The United States Preventive Services Task Force recommends that all newborns be tested for PKU.2The blood sample for PKU is usually taken from your baby's heel (called a heel stick). The test is done in the first few days after birth, as early as 24 hours after birth. A follow-up test is usually done at age 7 to 10 days. A urine PKU test can also be done for a baby more than 2 days old to as old as an adult.Why It Is DoneA phenylketonuria (PKU) test is done to see whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. It is important to test your baby for PKU soon after birth to prevent brain damage. Phenylalanine blood levels in a baby with PKU start to rise within 24 hours of drinking breast milk or formula. A PKU test done 2 to 3 days after birth will show whether your baby has PKU.How To PrepareYour baby should be drinking breast milk or formula for 24 hours before the sample is taken. PKU test results are more likely to be correct if the sample is taken after the baby has been drinking milk or formula for at least 48 hours. As when the baby's metabolism becomes active the metabolic defect becomes apparent . If your baby is older than 6 weeks, he or she will have a PKU urine test. You do not need to do anything before your baby has this test.How It Is DoneThe blood spot test your baby's heel is cleaned with alcohol and then the heel is poked with a small needle. Several drops of blood are collected inside circles on a special piece of paper. When enough blood has been collected, a small bandage is put on the site. This procedure can be painful and can lead to osteomyelitis of foot or permanent scaring. For a urine test, few drops of urine are required absorbed in filter paper which can be collected by placing the filter paper in diaper making it a painless procedure. The test yields more accuracy for PKU as the metabolites responsible for identification of the disease appear in urine first and then reach a significant level for diagnosis in blood. For newborn screening it is preferred.

When can PKU be diagnosed?

Infants are tested for PKU when they are first born. Brain damage occurs within days of birth, if PKU is not diagnosed and treated. Phenylketonuria is not found in adults, only newborn infants.

How is phenylketonuria inherited?

Phenylketonuria (PKU) is inherited when both parents are carriers of the gene. Since it is a recessive gene, there is a 25% chance that any baby conceived by two people carrying the PKU gene will have PKU.

What is the symptoms of pku?

some symptoms you can have with pku is babies can have brain damage which causes mental retardation another symptom is the baby can stunt its growth and your baby is most likely to stay small for life

How do you perform a PKU test?

Similar to a blood-glucose home test, a PKU patient pricks his or her finger and then places a drop of blood on the reagent strip inserted in the testing device. Phenylalanine in the blood causes a reaction to take place on the test strip. Then electronics in the device calculate the rate at which the test strip absorbs a specific color of light. This rate indicates the level of phenylalanine in the blood.

Individuals with PKU should not consumes the artificial sweetener aspartame because they?

People with PKU are highly prone to development of diabetes.

What sweetener should be avoided by people with PKU?

The artificial sweetener - aspartame

How can biochemical testing help babies live healthy lives?

The test can show if a baby has PKU, which can then be treated with a special diet.

What are the precautions for PKU and pregnancy?

Women with PKU must be especially careful with their diets if they want to have children. They should ensure that phenylalanine blood levels are under control before conception and throughout her pregnancy.

What are some syndromes a baby can be born with?

Down Syndrome, Autism, Treacher Collins syndrome, PKU, Fetal Alcohol Syndrome, etc.