Pku test when is it done

Koch JH. PKU: what's that? In: Koch J, ed. Robert Guthrie: the PKU story. Pasadena, Calif. Koch R, Wenz E. Annu Rev Nutr. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med. In: Scriver CR, ed. The metabolic and molecular bases of inherited disease. New York, N. Guthrie R. Blood screening for phenylketonuria. Fluorometric method for the determination of phenylalanine in Serum.

J Lab Clin Med. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. American Academy of Pediatrics Committee on Genetics. Newborn screening fact sheet. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem Mol Med. Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia. Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first six years.

Am J Obstet Gynecol. Treatment outcome of maternal phenylketonuria. Acta Paediatr Jpn. This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference.

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More in Pubmed Citation Related Articles. Email Alerts Don't miss a single issue. Sign up for the free AFP email table of contents. Navigate this Article. Repeat the test regardless of the results on initial screening. It is important to find this disease early.

To have the disease, you must inherit the gene from each parent. The 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. The test may be repeated within the first week or two after birth.

A phenylketonuria PKU screening test is done to see whether a newborn baby has the enzyme needed to use phenylalanine in their body. If this test shows that your baby has a phenylalanine problem, the doctor will do further testing to check whether your baby has PKU.

It's important for your baby to have this screening test soon after birth. If a baby has PKU and treatment starts right away, problems such as brain damage are less likely to occur. You do not need to do anything before your baby has this test. A heel stick is used to get a blood sample from a baby. The baby's heel is poked, and several drops of blood are collected.

Your baby may have a tiny bruise where the heel was poked. A brief pain, like a sting or a pinch, is usually felt when the lancet punctures the skin. Your baby may feel a little discomfort with the skin puncture. There is very little risk of a problem from a heel stick.

Your baby may get a small bruise at the puncture site. Every newborn is tested for a group of health disorders that aren't otherwise found at birth.

With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems.

Newborn screening lets doctors diagnose babies quickly and start treatment as soon as possible. Screening varies by state. Tests offered can change as technology advances and treatments improve.

Although there are national recommendations for newborn screening, it is up to each state to decide which tests to include. Metabolic problems. Metabolism is the process that converts food into energy the body can use to move, think, and grow. Enzymes are special proteins that help with metabolism by speeding up the chemical reactions in cells.

Most metabolic problems happen when certain enzymes are missing or not working as they should. Metabolic disorders in newborn screening include:.

Hormone problems. Hormones are chemical messengers made by glands. Hormone problems happen when glands make too much or not enough hormones. Hormone problems in newborn screening include:. Hemoglobin problems: Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.