Disorders For Which Babies Are Screened

Amino Acidemias and Urea Cycle Disorders
Website: www.merck.com.mill1.sjlibrary.org/mmhe/sec23/ch282/ch282c.html

  • 5-Oxoprolinuria

  • Agininemia (ARG)

  • Arginiosuccinic Aciduria (ASA)

  • Citrullinemia Type 1 (CTLN1)

  • Citrullinemia Type 2 (CTLN2)

  • Hypermethioninemia

  • Tyrosinemia Type 1, 2 & 3 (TYR)

Organic Acidemias
Website: www.oaanews.org

  • 2-Methyl Butyryl-CoA Dehydrogenase Deficiency (2MBDH Deficiency)

  • 3-Methylcrontonyl-CoA Carboxylase Deficiency (3-MCC)

  • 3-Methylglutaconyl-CoA Hydratase (3MGH Deficiency)

  • Beta-Ketothiolase Deficiency (Ketone Utilization Disorder) (BKT)

  • Glutaric Acidemia Type 1/Glutaryl-CoA Dehydrogenase Deficiency (GA1)

  • Glutaric Acidemia Type 2 (GA2)

  • Isobutyryl-CoA Dehydrogenase Deficiency (IBD)

  • Isovaleric Acidemia/Isovaleryl-CoA Dehydrogenase Deficiency (IVA)

  • M ethylmalonic Acidemia, Vitamin B12 Non-Responsive (MMA)

  • Methylmalonic Acidemia, Vitamin B12 Responsive (MMAA)

  • Multiple CoA Carboxylase Deficiency

  • Proprionic Acidemia/Propionyl-CoA Carboxylase Deficiency (PA)

Fatty Acid Oxidation Disorders
Website: www.fodsupport.org

  • 2,4 Dienoyl-CoA Reductase Deficiency

  • 3-Hydroxy 3-Methylglutaryl-CoA Lyase Deficiency (HMG)

  • Carnitine/Acylcarnitine Translocase Deficiency (CACT)

  • Carnitine Palmitoyl Transferase Deficiency Type 1 (CPT1)

  • Carnitine Palmitoyl Transferase Deficiency Type 2 (CPT2)

  • Long-chain Acyl-CoA Dehydrogenase Deficiency (LCADD)

  • Long-chain Hydroxy Acyl-CoA Dehydrogenase Deficiency/3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD)

  • Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

  • Short-chain Acyl-CoA Dehydrogenase Deficiency (SCADD)

  • Trifunctional Protein Deficiency (TFP)

  • Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Other Disorders

Appropriate websites for all disorders:


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