Disorder Timeline

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Newborn Screening Disorder Timeline

In 1964 Connecticut began testing newborns for phenylketonuria (PKU). Over the years, the state has added many more disorders to its newborn screening panel. In 2004 the lab introduced tandem mass spectrometry, a technology that greatly expanded testing by allowing detection of more than 60 conditions from just a few drops of blood. View the timeline on this page to see when each disorder was added.

Year Conditions
1964
  • Phenylketonuria (PKU)
1979
  • Congenital Hypothyroidism (CH)
  • Galactosemia (GALT)
1983
  • Maple Syrup Urine Disease (MSUD)
  • Homocystinuria (HCY)
  • Biotinidase Deficiency (BIO)
  • Hemoglobin SS Disease (Hgb SS)
  • Hemoglobin SC Disease (Hgb SC)
  • Hgb Bart's
  • Hemoglobin S Beta-thalassemia Disease (Hgb S/BTh)
  • Hgb Var & Traits
1995
  • Congenital Adrenal Hyperplasia (CAH)
2004
  • Tyrosinemia (TYR)
  • Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
  • Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  • Trifunctional Protein Deficiency (TFP)
  • Carnitine Palmitoyltransferase I Deficiency (CPT I)
  • Glutaric Acidemia, Type II (GA 2)
  • Carnitine Palmitoyltransferase Type II Deficiency (CPT II)
  • Carnitine Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Uptake Deficiency (CUD)
  • Propionic Acidemia (PPA)
  • Methylmalonic Acidemia (MMA)
  • Isovaleric Acidemia (IVA)
  • 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency (HMG)
  • 3-Methylcrotonyl CoA Carboxylase Deficiency (3 MCC)
  • Multiple CoA Carboxylase Deficiency (MCD)
  • Glutaric Acidemia, Type I (GA 1)
  • Beta-Ketothiolase Deficiency (BKT)
2005
  • Argininemia (ARG)
  • Citrullinemia (CIT)
  • Argininosuccinic Aciduria (ASA)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
  • 2,4 Dienoyl CoA Reductase Deficiency (DE RED)
2010
  • Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
  • Isobutyryl-CoA dehydrogenase deficiency (IBG)
  • Ethylmalonic Encephalopathy (EME)
  • 2-Methylbutyrylglycinuria (2MBG)
  • 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
  • 3-Methylglutaconic Aciduria (3MGA)
  • Carbamoyl Phosphate Synthetase 1 Deficiency (CPS)
  • Pyruvate Carboxylase Deficiency (PC)
  • Homocystinuria due to MTHFR
  • Hyperphenylalaninemia (PHE)
  • Biopterin Defect in Cofactor Biosynthesis (BIOPT BS)
  • Biopterin Defect in Cofactor Regeneration (BIOPT REG)
2011
  • Severe Combined Immunodeficiencies (SCID)
  • T-Cell Lymphopenias
2016
  • X-Linked Adrenoleukodystrophy (X-ALD)
  • Zellweger Spectrum Disorders (ZSD)
2020
  • Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1 (SMA)
  • Adenosine Deaminase Deficiency (ADA SCID)
2021
  • Glycogen Storage Disease, Type II (Pompe Disease) (GSD)
  • Mucopolysaccharidosis Type I (MPS I)
2023
  • Guanidinoacetate Methyltransferase Deficiency (GAMT)
2024
  • Mucopolysaccharidosis Type II (MPS II)
2025
  • Congenital Cytomegalovirus (cCMV)