Why is pku and congenital hypothyroidism done at birth

This is an inherited disorder that is very common in the Mennonite population. The disorder is caused by an inability of the body to properly process certain parts of protein called amino acids.

The name comes from the characteristic odor of maple syrup in the baby's urine caused by the abnormal protein metabolism. If untreated, it's life threatening as early as the first 2 weeks of life.

Even with treatment, severe disability and paralysis can occur. This inherited disorder affects 1 in , babies and causes intellectual disability, bone disease, and blood clots. It's caused by a deficiency of an enzyme needed to digest an amino acid called methionine. Biotinidase deficiency. This inherited disorder is characterized by a deficiency of the biotinidase enzyme.

This enzyme is important in metabolizing biotin, a B vitamin. Congenital adrenal hyperplasia. Most states screen for this inherited disease of the adrenal glands. Babies born with congenital adrenal hyperplasia CAH can't make enough of the hormone cortisol.

Cortisol helps control energy, sugar levels, blood pressure, and how the body responds to the stress of injury or illness. It's very common in a certain group of Eskimos in western Alaska. At birth, the baby may have no thyroid gland at all, or have a small, partially developed gland. Why this happens is often unknown, but in some cases it is genetic. Less commonly, a baby's thyroid did fully develop, but can't make normal amounts of thyroid hormone.

This is usually due to a genetic problem. Other children born to the same parents have a 1 in 4 chance of having the same thyroid problem. It's very important to diagnose and treat hypothyroidism right away. So thyroid testing is done on all infants at birth as part of normal newborn screening. If the newborn screen test is abnormal, other blood test are done to be sure of the diagnosis.

Sometimes doctors order imaging tests, such as an ultrasound or a thyroid scan , to get more information. A child with hypothyroidism will take thyroid hormone to make up for what the thyroid gland can't make. Most kids need to take the medicine for the rest of their lives. Some infants are born with temporary hypothyroidism. When treatment is needed, it's important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines, and close monitoring.

Visit Baby's First Test for more information on newborn screening and to find out which conditions your state checks for. Reviewed by: Michael F. Cellucci, MD. Larger text size Large text size Regular text size. What Is Newborn Screening? Which Screening Tests Are Offered? Newborn screening includes tests for: Metabolic problems. Hormone problems in newborn screening include: congenital hypothyroidism congenital adrenal hyperplasia Hemoglobin problems: Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

Some of the hemoglobin problems included in newborn screening are: sickle cell disease hemoglobin SC disease beta thalassemia Other problems. Other rare but serious medical problems included in newborn screening are: galactosemia biotidinase deficiency cystic fibrosis severe combined immunodeficiency SCID Pompe disease glycogen storage disease type II mucopolysaccharidosis type 1 X-linked adrenoleukodystropy spinal muscle atrophy SMA Most states also screen for hearing loss and critical congenital heart disease.

Newborn screening tests have significantly enhanced the detection of congenital disorders of metabolism, and programs employing such methods have made extraordinary contributions to public health. The good of these programs is indisputable, but we must recognize false-positive test results as an adverse effect and devote more attention to addressing the morbidities associated with them, along with the opportunities to reduce the magnitude of the problem.

It must also be remembered that the clinical practice associated with newborn screening should begin with, not end with, the screening test result. Effective communication needs to be part of optimized practice for families who encounter either false- or true-positive results.

We are also grateful to Lan Zeng, MS, for her invaluable assistance with statistical analyses. Corresponding author: Philip M. Kwon C, Farrell PM. Arch Pediatr Adolesc Med. Coronavirus Resource Center. Our website uses cookies to enhance your experience.

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July Farrell, MD, PhD. View Large Download. National Newborn Screening Results for Endocrinopathies. Guthrie R The origin of newborn screening. Kuory MJand the Genetics Working Group, From genes to public health: the applications of genetic technology in disease prevention.

Am J Pub Health. Adv Pediatr. Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program. Parental response to repeat testing of infants with "false-positive" results in a newborn screening program. Psychosocial impact of false-positive results when screening for cystic fibrosis. Pediatr Pulmonol. Therrell BLed. Laboratory Methods for Neonatal Screening. Levy HL Neonatal screening for galactosemia.

Wilcken BWebster Deds. Neonatal Screening in the Nineties. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to hydroxylase deficiency.