Resources for Health Care Providers

ACT Sheets or ACTion sheets are action plans for each disorder that provide recommended immediate next steps for a health professional to follow when a newborn has an out-of-range test result. 

Amino Acid Disorders

Core 

• Argininosuccinic Acidemia (ASA)
• Citrullinemia (CIT) 
• Homocystinuria (HCY) 
• Maple Syrup Urine Disease (MSUD) 
• Phenylketonuria (PKU)
• Tyrosinemia Type I (TYR I)

Secondary 

• Argininemia (ARG)
• Benign Hyperphenylalaninemia (H-PHE) 
• Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
• Biopterin Defect in Cofactor Regeneration (BIOPT-REG) 
• Citrullinemia, type II (CIT II) 
• Hypermethioninemia (MET)
• Tyrosinemia, type II (TYR II)  
• Tyrosinemia, type III (TYR III)

Fatty Acid Oxidation Disorders

Core

• Carnitine Uptake Defect (CUD)
• Long-chain L-3-OH acyl-CoA Dehydrogenase Deficiency (LCHAD) 
• Medium-chain acyl-CoA dehydrogenase Deficiency (MCAD)
• Trifunctional Protein Deficiency (TFP)
• Very Long-chain acyl-CoA Dehydrogenase Deficiency (VLCAD)

Secondary

• 2,4 Dienoyl-CoA reductase deficiency (DE RED)
• 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency (HADH) (previously named Medium/Short Chain Acyl-CoA Dehydrogenase (M/SCHAD)) 
• Carnitine Acylcarnitine Translocase Deficiency (CACT) 
• Carnitine Palmitoyl Transferase I Deficiency (CPT1) 
• Carnitine Palmitoyltransferase Type II Deficiency (CPTII) 
• Glutaric Academia, Type II (GA2) 
• Medium-chain Ketoacyl-CoA Thiolase Deficiency (MCAT) 
• Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) 

Organic Acid Disorders

Core

• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
• 3-Hydroxy-3methylglutaric Aciduria (HMG) 
• Beta-Ketothiolase Deficiency (BKT)
• Glutaric Acidemia Type 1 (GA1)
• Isovaleric Acidemia (IVA) 
• Methylmalonic Acidemia (Cbl A,B)
• Methylmalonic Acidemia (mutase deficiency form) (MUT) 
• Multiple Carboxylase Deficiency (MCD)
• Propionic Acidemia (PROP)

Secondary

• 2 Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG) 
• 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
• 3-Methylglutaconic Aciduria (3MGA) 
• Isobutyrylglycinuria (IBG)
• Methylmalonic Acidemia with Homocystinuria (Cbl C,D)
• Malonic Acidemia (MAL) 

Endocrine Disorders

Core

• Congenital Adrenal Hyperplasia (CAH)
• Congenital Hypothyroidism (CH) 

Hemoglobin Disorders or Hemoglobinopathies

Core

• Sickle Cell Anemia (Hb SS)
• Hemoglobin S/Beta Zero Thalassemia (Hb S/ßTh) 
• [FSC] Hemoglobin S/C Disease (Hb S/C)
• [FSA] Hemoglobin S/Beta+ Thalassemia (HbSß+Disease)

Secondary

• Various Hemoglobinopathies (Var Hb) 
• F,A, Other (Probable Unidentified Hb Variant) 
• FC (HbCC Disease or HbC/Beta Zero Thalassemia) HbC/ß0 Disease  
• FCA (HbC/Beta Plus Thalassemia) HbC/ß+Disease  
• FD (HbDD Disease) Hemoglobin D Disease   
• FE (HbEE or HbE/Beta Zero Thalassemia) EE or Hb E/ß0 Disease  
• FEA (HbE/Beta Plus Thalassemia) HbE/ß+Disease  
• Beta Thalassemia Major (Hemoglobin F [Fetal] Only) 

Other Disorders

Core 

• Biotinidase Deficiency (BIOT) 
• Cystic Fibrosis (CF) 
• Cystic Fibrosis with One Mutation (CF) 
• Cystic Fibrosis with Two Mutations (CF)
• Galactosemia (GALT)
• Severe Combined Immunodeficiency (SCID) 
• Spinal Muscular Atrophy (SMA) 
• X-linked Adrenoleukodystrophy (X-ALD)

Secondary

T-cell related lymphocyte deficiencies 

Financial Assistance

Newborn Screening (NBS) Benefits Program - Contractor Manual, Eligibility Forms, Instructions and Billing

Texas Department of State Health Services (DSHS)Health Care Providers

DSHS Laboratory Health Care Providers Resource Page
Medical Consultants

Training

Texas Health Steps Online Provider Education – Program offers self-paced modules with free continuing education credits for primary care providers and other health professionals.  

Websites

Baby's First Test – Facts, advice and support for parents and professionals
Save Babies Through Screening Foundation – Non-profit organization that advocates for comprehensive newborn screening.

Additional Disorder/NBS Information

• DSHS Use and Storage of Dried Blood Spot Cards
• Abbreviations and Alternate Names for the Additional NBS Disorders
• American Academy of Pediatrics (AAP) Fact Sheets Introduction (9/2006)
• American Academy of Pediatrics (AAP) Fact Sheets (9/2006)
• Cystic Fibrosis - Accredited Care Centers in TX
• Cystic Fibrosis - DNA Testing 60-Mutation Panel
• Genetics Home Reference – Guide to Understanding Genetic Conditions
• Screening Critically Ill and Premature Infants – NBS protocols for infants in neonatal intensive care units.