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    Newborn Screening Unit
    PO Box 149347, MC-1918
    Austin, Texas 78714-9347

    Phone: 512-776-3957
    Fax: 512-776-7450
    Toll-free: 800-252-8023, ext. 3957

    newborn@dshs.texas.gov


Secondary Conditions of the Recommended Uniform Screening Panel

Every baby born in Texas gets two newborn screening blood tests that check for a number of rare disorders. On May 26, 2015, the Department of State Health Services began reporting results for 24 secondary conditions in addition to the 32 core conditions.

Secondary conditions are believed to be clinically significant, but some may have an unclear natural history or lack appropriate medical therapy that affects long-term outcome. They are detected during screening for core conditions. Some secondary conditions may be as severe and life threatening as core conditions.

Physicians and primary care providers can view Act Sheets that provide action plans for recommended immediate next steps a health professional to follow when a newborn has an out-of-range test result. The lists below describe the 24 secondary conditions and include Fact Sheets for each condition that can be shared with parents or non-health professionals.

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.

Amino Acid Disorders
# Amino Acid Disorders
1 Argininemia (ARG) is a condition that causes harmful amounts of ammonia and the amino acid arginine to build up in the body. If untreated, ARG can cause muscle problems and developmental delay.Fact Sheets: ARG English - ARG Spanish
2 Benign Hyperphenylalaninemia (H-PHE) is a mild form of phenylketonuria. People with H-PHE have problems breaking down an amino acid, a building block of proteins, known as phenylalanine (PKU). Most people with this condition experience mild symptoms or no symptoms. They can have healthy growth and development. However, some babies with H-PHE do have a small risk of brain damage without treatment. H-PHE Fact Sheet
3 Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. People with BIOPT-BS are unable to break down certain amino acids including phenylalanine. If not treated, a baby can have developmental delays, seizures, behavior troubles and weak muscle tone. BIOPT-BS Fact Sheet
4 Biopterin Defect in Cofactor Regeneration (BIOPT-REG) is a condition that causes high amounts of phenylalanine and other harmful substances to build up in the body. People with BIOPT-BS are unable to break down certain amino acids including phenylalanine. If not treated, a baby can have developmental delays, seizures, behavior troubles and weak muscle tone. BIOPT-REG Fact Sheet
5 Citrullinemia, Type II (CIT II) is a condition in which the body is unable to make citrin, a protein that helps move substances within the cells. When citrin does not work properly, the body cannot break down carbohydrates correctly. It causes low sugar levels, high amino acid levels, and high amounts of ammonia in the blood. Fact Sheets: CIT II English - CIT II Spanish
6 Hypermethioninemia (MET) is a condition that occurs when there is a high amount of methionine in the body. People with MET are unable to break down an amino acid, a building block of proteins, known as methionine. If not treated, MET can cause learning delays, muscle weakness, and other health issues. MET Fact Sheet
7 Tyrosinemia, Type II (TYR II) is a condition in which the body is not able to break down an amino acid known as tyrosine. Signs of TYR II usually begin in the first year of life. These signs include sensitivity to light, eye redness, skin lesions on the hands and feet, behavior changes, and poor coordination. Early treatment can reduce the risk of developing intellectual disabilities. TYR II Fact Sheet
8 Tyrosinemia, Type III (TYR III) is a condition in which the body is not able to break down the amino acid tyrosine. Signs of TYR III may include poor coordination and balance and seizures. Early treatment can reduce the risk of developing intellectual disabilities. TYR III 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
# Fatty Acid Oxidation (FAO) Disorders
9 2,4 Dienoyl-CoA Reductase Deficiency (DE RED) is an extremely rare condition in which the body is unable to break down certain fats. A baby with this condition had signs including small body and head size, short torso, arms, and fingers, weak muscle tone, poor appetite, vomiting, irritability, and delayed weight gain. Fact Sheets: DE RED English - DE RED Spanish
10 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency (HADH), previously named Medium/Short Chain Acyl-CoA Dehydrogenase (M/SCHAD), is a condition in which the body is unable to break down certain fats. Many people with HADH never have symptoms, but some experience serious health effects. Babies who do not receive treatment for HADH are at risk of life-threatening heart and breathing problems, brain damage, or coma. Fact Sheets: HADH/MSCHAD English - HADH/MSCHAD Spanish
11 Carnitine Acylcarnitine Translocase Deficiency (CACT) is a condition in which the body is unable to break down certain fats. Signs of CACT in babies include weak muscle tone, behavior changes, poor appetite, trouble breathing, seizures and developmental delays. Fact Sheets: CACT English - CACT Spanish
12 Carnitine Palmitoyl Transferase I Deficiency (CPT1) is a condition in which the body is unable to break down certain fats. Children with CPT1 usually start showing symptoms when they are 8 to 18 months old. If not treated, CPT1 can cause breathing problems, seizures, and coma, sometimes leading to death. Fact Sheets: CPT1 English - CPT1 Spanish
13 Carnitine Palmitoyltransferase Type II Deficiency (CPTII) is a condition in which the body is unable to break down certain fats. Signs of CPTII in babies include weak muscle tone, behavior changes, poor appetite, trouble breathing, seizures and developmental delays. Fact Sheets: CPTII English - CPTII Spanish
14 Glutaric Acidemia, Type II (GA2) is a condition in which the body is unable to break down certain fats and proteins. GA2 can cause weak muscle tone, severe heart problems, and death. Treatment may not be effective for some newborns with this condition. Fact Sheets: GA2 English - GA2 Spanish
15 Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT) is an extremely rare condition in which the body is unable to break down certain fats. Signs of MCAT include vomiting, weight loss, poor appetite, diarrhea, trouble breathing. Fact Sheet: MCAT English - MCAT Spanish
16 Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) is a condition in which the body is unable to break down certain fats. Each child with SCAD has a different experience. Signs of SCAD include behavior changes, irritable mood, poor appetite, trouble breathing and seizures. Fact Sheets: SCAD English - SCAD Spanish

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
# Organic Acid Disorders
17 2 Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG) is a condition in which the body is unable to break down certain proteins. Very few cases of 2MBG have been reported. Signs of 2MBG include tiredness, irritability, vomiting, fever, weak muscle tone, delayed growth, tight muscles, and developmental delays. Fact Sheets: 2MBG English - 2MBG Spanish
18 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA) is a condition in which the body is unable to break down certain proteins. Children with 2M3HBA start showing signs during infancy, typically between 9 and 14 months. Males and females can have different signs of 2M3HBA. Males are more severely affected than females. Fact Sheets: 2M3HBA English - 2M3HBA Spanish
19 3-Methylglutaconic Aciduria (3MGA) is the name for a group of five different conditions in which the body is unable to break down certain proteins. The causes, symptoms, and treatment of the five different types of 3MGA vary, but they all begin in utero or at birth. Fact Sheets: 3MGA English - 3MGA Spanish
20 Isobutyrylglycinuria (IBG) is a condition in which the body is unable to break down certain proteins. IBG is a very rare condition. A child with IBG had signs that began at age one. Signs of IBG include delayed growth, tiredness, pale skin, trouble regulating body temperature, and difficulty breathing. Fact Sheets: IBG English - IBG Spanish
21 Methylmalonic Acidemia with Homocystinuria (Cbl C,D) is a condition in which the body is unable to process certain fats and proteins. Signs of Cbl C, D include delayed growth, small head size, skin rash, poor appetite and weak muscle tone. Fact Sheets: MMA Cbl C,D English - MMA Cbl C,D Spanish
22 Malonic Acidemia (MAL) is a condition in which the body is unable to break down certain proteins. There are very few reported cases of MAL. Signs and symptoms of the condition vary and can include developmental delays, weak muscle tone, diarrhea, vomiting, and seizures. Fact Sheets: MAL English - MAL Spanish

Hemoglobin disorders (also called hemoglobinopathies) are rare blood conditions caused by problems with hemoglobin which is a protein in the blood that carries oxygen.

Hemoglobin Disorders
# Hemoglobin disorders
23 Various Hemoglobinopathies (Var Hb) are inherited single-gene disorders. Mutations of the hemoglobin can have different effects on the red blood cell, such as shape of the cell or how well the cell carries oxygen. These abnormalities may cause conditions such as anemia, jaundice, and pain. Var Hb Fact Sheet
Other Disorders
# Other Disorders
24 T-Cell Related Lymphocyte Deficiencies are conditions in which the body’s immune system is not working properly. The body’s immune system is made up of different parts that work together to protect it from infection. T-cells are a specific type of white blood cell of the immune system that helps to protect the body from certain kinds of illnesses. Babies with T-cell deficiencies are born without enough working T-cells and may get repeated infections. Fact Sheets: T-Cell Related Lymphocyte Deficiencies English - T-Cell Related Lymphocyte Deficiencies Spanish

The information above is not intended to replace the advice of a genetic metabolic medical professional.


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 people with disabilities.
Last updated October 8, 2019