Every baby born in Texas gets two newborn screening blood tests that check for a number of rare disorders. The first test is done 24 to 48 hours after birth. The second one is done at the baby’s checkup at one to two weeks of age. Read more about the newborn screening tests.
Texas law (Health and Safety Code, Chapter 33) requires that all newborns are screened for certain genetic disorders or medical conditions, which currently includes 31 core and 24 secondary conditions. Finding and treating these disorders early can prevent serious complications such as growth and developmental delays, deafness, blindness, intellectual disabilities, seizures, and sudden or early death.
Amino acid disorders are rare health conditions that affect a body’s metabolism which is how the body changes food into the energy it needs to have normal physical and mental development. People who have an amino acid disorder cannot make or break down certain proteins. Treatment may include a low-protein diet and/or special medical foods and formula and medication.
Amino Acid Disorders
| 1||Argininosuccinic Acidemia (ASA) is a condition that causes dangerous amounts of ammonia to build up in the body. People with this condition are not able to remove the waste product ammonia that is produced when the body breaks down amino acids. High ammonia in the body can cause muscle weakness, swelling of the brain, and coma, sometimes leading to death if not treated. ASA Fact Sheet|
| 2||Citrullinemia (CIT) is a condition that causes dangerous amounts of ammonia to build up in the body. It happens when an enzyme called “argininosuccinic acid synthetase” (ASAS) is either missing or doesn’t work right. ASAS helps break down amino acids and removes ammonia from the body. Too much ammonia can cause muscle weakness, breathing problems, seizures, brain damage, and death if untreated. CIT Fact Sheet |
| 3||Homocystinuria (HCY) is a condition in which the body is not able to break down certain proteins. Amino acids build up in the body and can cause serious health problems. If not treated, this condition can cause intellectual disability and growth delays. It can also affect the eyes, bones, heart, and blood vessels. Treatment may involve a special restricted protein diet and supplemental medicines. HCY Fact Sheet|
| 4||Maple Syrup Urine Disease (MSUD) is a a condition in which the body cannot break down certain amino acids from protein in food. It is named for the sweet maple syrup smell of the urine in untreated babies. Early detection and treatment can prevent severe intellectual disability, blindness and death. There is an increased risk in Mennonites. MSUD Fact Sheet|
| 5||Phenylketonuria (PKU) is a condition in which the body cannot break down an amino acid called phenylalanine (Phe) from the protein in food. This amino acid is needed for brain development. Undetected and untreated with a special restricted protein diet, PKU leads to intellectual disability. Persons of European descent are at increased risk. PKU Fact Sheet|
| 6||Tyrosinemia Type I (TYR 1) is a condition caused by a deficiency in the liver of one enzyme that breaks down tyrosine. If not treated, the condition causes severe liver disease and other serious health problems. Treatment consists of medication including vitamin D and nitisinone, and a special restricted protein diet. TYR 1 Fact Sheet |
Fatty acid oxidation (FAO) disorders are rare disorders in which the body is not able to break down fatty acids. Without fatty acids, the body runs out of energy and cannot continue to function. Also, if fatty acids are not broken down, they build up in the body causing damage to important organs such as the heart and liver. Treatment may include a low fat diet, frequent food intake, supplementation with L-Carnitine (Carnitor) and medium-chain triglycerides.
Fatty Acid Oxidation (FAO) Disorders
| 7||Carnitine Uptake Defect (CUD) is a condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. The body is unable to break down certain fats. This can result in a build up of unused fatty acids. If untreated, CUD can cause can cause intellectual disability, an enlarged heart, weak muscles or death. CUD Fact Sheet|
| 8||Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) is a condition in which the body is unable to break down certain fats and cannot change some of the fats into energy the body needs. LCHAD can cause periods of low blood sugar and if not treated, a child with LCHAD can develop breathing problems, swelling of the brain, seizures, and coma, sometimes leading to death. LCHAD Fact Sheet|
| 9|| Medium Chain Acyl-CoA Dehydrogenase (MCAD) is a condition in which the body is unable to break down certain fats and is unable to change them into energy the body needs. If untreated, MCAD can cause breathing problems and low blood sugar. Undetected, it can cause sudden death. Treatment includes ensuring frequent food intake. MCAD Fact Sheet|
| 10||Trifunctional Protein Deficiency (TFP) is a condition in which the body is not able to break down certain fats that the body needs for energy. Babies and young children with TFP should not go without food for more than 4 to 6 hours and sometimes more often. If not treated, a child with TFP can develop breathing problems, seizures, and coma, sometimes leading to death. TFP Fact Sheet|
| 11||Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD) is a condition in which the body is unable to break down certain fats into energy. VLCAD can cause periods of low blood sugar and if not treated, a child with VLCAD can develop breathing problems, swelling of the brain, seizures, and coma, sometimes leading to death. VLCAD Fact Sheet|
Organic acid disorders are conditions that cause toxic organic acid products to build up because the body cannot breakdown certain amino acids and odd-chain organic acids. The human body uses amino acids to make proteins to help the body grow and work properly. Treatment includes restricting protein in the diet and supplementation with vitamins and/or L-Carnitine.
Organic Acid Disorders
| 12||3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) is a condition in which the body is unable to properly break down an amino acid called leucine. Harmful amounts of organic acids and toxins can build up in the body. Treatment often involves eating a low-leucine diet. If not treated, a child with 3MCC can develop breathing problems, seizures, liver failure, and coma, sometimes leading to death. 3MCC Fact Sheet |
| 13||3-Hydroxy-3methylglutaric Aciduria (HMG) is a condition in which the body is unable to break down certain proteins. People with the condition also are unable to produce ketone bodies, substances that help the body store energy. A child with HMG can develop breathing problems, heart enlargement, hearing loss, vision problems, seizures, and coma, sometimes leading to death. HMG Fact Sheet |
| 14||Beta-Ketothiolase Deficiency (BKT) is a condition in which the body is unable to break down break down an amino acid called isoleucine from food. All foods with protein contain isoleucine. A child with BKT can develop intellectual disability, muscle spasms, enlarged heart, higher risk for infections, and kidney problems. BKT Fact Sheet |
| 15||Glutaric Acidemia Type 1 (GA1) is a condition in which the body is unable to break down the amino acids lysine and tryptophan from foods. Newborns with GA1 are usually healthy, but many are born with a large head. If not treated, child with GA1 can develop tics or muscle spasms, poor coordination and balance, seizures, brain swelling, and coma, sometimes leading to death. GA1 Fact Sheet |
| 16||Isovaleric Acidemia (IVA) is a condition in which the body is unable to break down isovaleric acid. This acid builds up in the blood and causes problems when a child with IVA eats food with leucine that is found in all foods with protein. If not treated, a child with IVA can develop breathing problems, seizures, strokes, intellectual disability, and coma, sometimes leading to death. IVA Fact Sheet |
| 17||Methylmalonic Acidemia (MMA) (Cbl A and Cbl B forms) (Cbl A,B) is a condition in which the body is unable to break down certain fats and proteins. It can lead to a harmful amount of organic acids and toxins in the body. Signs of MMA Cbl A, B can include weak muscle tone, breathing trouble, frequent illnesses and infections, and increased bleeding and bruising. MMA Cbl AB Fact Sheet |
| 18||Methylmalonic Acidemia (mutase deficiency form) (MUT) is a condition in which the enzyme methylmalonyl-CoA mutase is not working correctly in the body. This enzyme helps break down odd-chain fatty acids and certain amino acids. Signs of MUT can include weak muscle tone, breathing trouble, frequent illnesses and infections, and increased bleeding and bruising. MUT Fact Sheet|
| 19||Multiple Carboxylase Deficiency (MCD) is a condition in which the body cannot change protein and carbohydrates into energy. Harmful matter builds up in the blood and urine that can cause serious health problems. If not treated, a child with MCD can develop breathing problems, seizures, brain swelling, and coma, sometimes leading to death. MCD Fact Sheet|
| 20||Propionic Acidemia (PROP) is a condition in which the body is unable to break down certain proteins and fats. It can lead to a harmful amount of organic acids and toxins in the body. If left untreated, it can cause breathing problems, seizures, weak bones, skin rashes, poor growth, intellectual disabilities or even death. PROP Fact Sheet |
Endocrine Disorders are rare disorders that affect the endocrine system which is a group of glands and organs in the body that produce, store and release hormones that help control important body functions.
|21 ||Congenital Adrenal Hyperplasia (CAH) is caused by decreased or absent production of certain adrenal hormones. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy. CAH Fact Sheet|
|22 ||Congenital Hypothyroidism (CH) is a condition in which the thyroid gland does not make enough or any thyroid hormone. Thyroid hormone replacement therapy begun by one month of age can prevent intellectual and growth disabilities. CH Fact Sheet |
Hemoglobin Disorders are rare blood conditions caused by problems with hemoglobin which is a protein in the blood that carries oxygen. Persons of African or Mediterranean descent are at an increased risk. Early treatment with daily penicillin prevents death in the first few years of life. This is because infants and young children with these conditions have a higher risk of getting infections.
|23 ||Sickle Cell Anemia (Hb SS) is the most common sickle cell disease. It clogs blood vessels and causes severe pain. It also can cause problems such as organ and tissue damage. HbSS Fact Sheet|
|24 ||Sickle Beta Thalassemia (Hb S/Th) is a condition in which the hemoglobin is not normal and the red blood cells are small and pale. Problems can happen when different parts of the body do not get enough oxygen. HbSbTh Fact Sheet |
|25 ||Sickle-Hemoglobin C Disease (Hb S/C) is a “mild” form of sickle cell anemia. The red blood cells of a child with Hb S/C disease have two kinds of abnormal hemoglobin. HbSC Fact Sheet|
|26 ||Biotinidase Deficiency (BIOT) is a condition in which the body cannot use the vitamin called biotin. The body needs biotin to break down fats, proteins, and carbohydrates effectively. If not treated, a baby can have seizures, hearing loss, vision problems, and death in severe cases. Treatment involves daily doses of biotin. BIOT Fact Sheet|
|27 ||Cystic Fibrosis (CF) is a condition that affects the lungs, digestive system, and overall growth. It causes thickened secretions, which clog the lungs and cause breathing problems. It also can affect the pancreas and make it hard to break down and absorb food. CF Fact Sheet|
|28 ||Galactosemia (GALT) is a condition in which the body cannot break down galactose. Galactose is a sugar found in milk and milk products. It can lead to cataracts, liver cirrhosis, intellectual disability and/or death. Treatment is to remove galactose from the diet usually by substituting soy for milk products. GALT Fact Sheet|
|29 ||Severe Combined Immunodeficiency (SCID) is a condition in which the body’s immune system is not able to fight infection. Babies with SCID appear healthy at birth but can quickly become sick when exposed to common illnesses. SCID is so rare that medical providers might not diagnose it until it is too late to provide lifesaving treatment. SCID Fact Sheet|
Point-of-Service Screenings are tests done at the birthing facility before the baby goes home. These screenings are separate from the blood spot screening.
|30 ||Critical Congenital Heart Disease (CCHD) refers to a group of serious heart defects that are present from birth. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen that can lead to organ damage and life-threatening complications. Read more about CCHD.|
|31 ||Newborn Hearing Screening checks how well a baby can hear because some babies are born who deaf or hard of hearing. Most birthing facilities provide the screening before newborns go home. If a baby is born at home or in a birthing center that does not participate in hearing screening, they will refer parents to a certified program to schedule the hearing screening. Read more about newborn hearing screening. |
The above list includes the 29 disorders screened through blood testing and 2 point-of-service screens (critical congenital heart disease and hearing) for a total of 31 core disorders. On May 26, 2015, Texas began reporting results for 24 secondary conditions in addition to the core conditions.
This information is not intended to replace the advice of a genetics medical professional. Some information has been provided by STAR-G (Screening, Technology, and Research in Genetics) and GeneTests
External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may not be accessible to persons with disabilities.