Skip to Main Content
Table 1.

Newborn screening tests in Connecticut.

Tests
Amino Acid Disorders 
• Argininemia or Arginase Deficiency 
• Argininosuccinic Aciduria (Argininosuccinase – Deficiency) 
• Citrullinemia or Argininosuccinic Acid Synthetase Deficiency 
• Homocystinuria or Hypermethionemia 
• Hyperprolinemia 
• Maple Syrup Urine Disease (MSUD) 
• Nonketotic Hyperglycinemia 
• Phenylketonuria (PKU) 
• Pyroglutamic Acidemia 
• Tyrosinemia 
Fatty Acid Oxidation Disorders 
• Carnitine / Acylcarnitine Translocase Deficiency (CAT) 
• Carnitine Palmitoyltransferase Deficiency I (CPT I) 
• Carnitine Palmitoyltransferase Deficiency II (CPT II) 
• Carnitine Transporter Deficiency 
• Ethylmalonic Acidemia (EDA) 
• Glutaric Acidemia Type II (GAII) or Multiple acyl-CoA Dehydrogenase Deficiency (MADD) 
• LCADD 
• LCHADD or Trifunctional Protein Deficiency 
• MCADD 
• SCADD (Short-Chain ACYL-CoA Dehydrogenase Deficiency) 
• VLCADD 
• 2,4 Dienoyl CoA Reductase Deficiency 
Organic Acid Disorders 
• Beta-Ketothiolase Deficiency (BKT) / Mitochondrial Acetoacetyl CoA Thiolase Deficiency 
• Glutaric Acidemia Type I (GA-I) 
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) 
• Isovaleric Acidemia (IVA) 
• Methylmalonic Acidemia (MMA) 
• 3MMC OR 3MCC (3-Methylcrotonyl-CoA Carboxylase Deficiency) 
• Multiple CoA Carboxylase Deficiency 
• Propionic Acidemia (PPA) 
Additional Disorders 
• Congenital Adrenal Hyperplasia 
• Hemoglobinopathies 
• Hypothyroid 
• Galactosemia 
• Biotinidase Deficiency 
Tests
Amino Acid Disorders 
• Argininemia or Arginase Deficiency 
• Argininosuccinic Aciduria (Argininosuccinase – Deficiency) 
• Citrullinemia or Argininosuccinic Acid Synthetase Deficiency 
• Homocystinuria or Hypermethionemia 
• Hyperprolinemia 
• Maple Syrup Urine Disease (MSUD) 
• Nonketotic Hyperglycinemia 
• Phenylketonuria (PKU) 
• Pyroglutamic Acidemia 
• Tyrosinemia 
Fatty Acid Oxidation Disorders 
• Carnitine / Acylcarnitine Translocase Deficiency (CAT) 
• Carnitine Palmitoyltransferase Deficiency I (CPT I) 
• Carnitine Palmitoyltransferase Deficiency II (CPT II) 
• Carnitine Transporter Deficiency 
• Ethylmalonic Acidemia (EDA) 
• Glutaric Acidemia Type II (GAII) or Multiple acyl-CoA Dehydrogenase Deficiency (MADD) 
• LCADD 
• LCHADD or Trifunctional Protein Deficiency 
• MCADD 
• SCADD (Short-Chain ACYL-CoA Dehydrogenase Deficiency) 
• VLCADD 
• 2,4 Dienoyl CoA Reductase Deficiency 
Organic Acid Disorders 
• Beta-Ketothiolase Deficiency (BKT) / Mitochondrial Acetoacetyl CoA Thiolase Deficiency 
• Glutaric Acidemia Type I (GA-I) 
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) 
• Isovaleric Acidemia (IVA) 
• Methylmalonic Acidemia (MMA) 
• 3MMC OR 3MCC (3-Methylcrotonyl-CoA Carboxylase Deficiency) 
• Multiple CoA Carboxylase Deficiency 
• Propionic Acidemia (PPA) 
Additional Disorders 
• Congenital Adrenal Hyperplasia 
• Hemoglobinopathies 
• Hypothyroid 
• Galactosemia 
• Biotinidase Deficiency 
Close Modal

or Create an Account

Close Modal
Close Modal