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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)

  • Methylmalonic 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:

www2.uthscsa.edu/nnsis
www.marchofdimes.com
www.savebabies.org
www.drgreene.com
www.webmd.com

 
The North Dakota Department of Health, Division of Family Health, does not assume responsibility for the content obtained from external hyperlinks accessed from this website. Any links to external sources are outside of our domain. Information on external websites does not necessarily reflect the views and opinions of the North Dakota Department of Health or the Division of Family Health.

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