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Diseases and Related Tests

  

Alpha- Aminoadipic Acidemia (2-Oxoadipic aciduria) 

 

Argininemia Arginase Deficiency (ARG) 

 

Arginosuccinic Aciduria or Arginosuccinate Lyase Deficiency (ASA) 

 

Aromatic L-amino Decarboxylase (AADC) Deficiency 

Beta Ketothiolase: Mitochondrial Methylacetoacetyl-CoA Thiolase Deficiency 

 

Biotinidase Deficiency 

 

Carbamylphosphate Synthetase Deficiency 

 

Canavan's Disease 

 

Carnosinase Deficiency 

Carnitine Palmitoyltransferase I Deficiency (CPTI) 

 

Carnitine Palmitoyltransferase II Deficiency (CPTII) 

 

Carnitine/Acylcarnitine Translocase Deficiency (CACT)   

  • Acylcarnitine profile
  • Carnitine Levels
    •  

      Carnitine Transport Defect or Carnitine Uptake Disorder (CTD or CUD) 

    • Carnitine Levels
      •  

        Cerebral Folate Deficiency (CFD) 

         

        Citrullinemia Type I: Arginiosuccinate Synthetase Deficiency (CIT I) 

         

        Citrullinemia Type II: Citrin Deficiency 

         

        Dihydrolipoyl Dehydrogenase (E3) Deficiency 

         

        Dihydropteridine Reductase (DHPR) Deficiency 

         

        Dopamine Beta Hydroxylase (DBH) Deficiency 

         

        Dopa Responsive Dystonia 

         

        Ethylmalonic Encephalopathy (EMA ENC)

         

        Fumarase Deficiency 

         

        Glutaric Aciduria Type I (GAI) 

         

        Glutaric Aciduria Type II 

         

        Guanosine-triphosphate Cyclohydroxylase (GTPCH) Deficiency 

         

        Hawkinsinuria  

         

        Histidinemia 

         

        Holocarboxylase Synthetase Deficiency: Multiple Carboxylase Deficiency (HCS or MCD)  

         

        Homocystinuria: Cystathionine Beta Synthease Deficiency (HCYS) 

         

        4-Hydroxybutyric Aciduria (4HBA) 

        2-Hydroxyglutaric Aciduria (does not distinguish D and L forms) 

         

        3-Hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency 

         

        Hyper-β-alaninemia 

         

        Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH) 

         

        Hyperhydroxyprolinemia 

         

        Hyperlysinemia  

        Hyperornithinemia 

         

        Hyperphenlalaninemia 

         

        Hyperprolinemia Type I 

         

        Hyperprolinemia Type II 

         

        Isobutyryl-CoA Dehydrogenase Deficiency: Isobutyrylglycinuria (IBCD or IBG) 

         

        Isovaleric Acidemia: Isovaleryl-CoA Dehydrogenase Deficiency (IVA)  

         

        Long-chain Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency  

         

        Malonic Aciduria: Malonyl-CoA Decarboxylase Deficiency (MAL) 

         

        Maple Syrup Urine Disease (MSUD) 

         

        Medium-chain acyl-CoA Dehydrogenase (MCAD) Deficiency 

         

        Methionine Adenosyl Transferase Deficiency (MAT): Hypermethioninemia 

         

        2-Methylbutyryl-CoA dehydrogenase Deficiency: 2-Methylbutyrylglycinuria (2-MBCD or 2-MBG) 

         

        3-Methylcrotonyl-CoA Carboxylase (3MCC) Deficiency 

         

        3-Methylglutaconic Aciduria Type I: 3-Methylglutaconyl-CoA Hydratase Deficiency (3-MGA type I) 

         

        Methylenetetrahydrofolate Reductase (MTHFR) Deficiency  

        Methylmalonic Acidemia: Methylmalonyl-CoA mutase Deficiency (MMA or MUT) 

         

        Mevalonate Kinase Deficiency (Intermittent Fever Syndrome) 

         

        Mevalonic Aciduria 

         

        Mitochondrial Trifunctional Protein Deficiency (TFP or MTP) 

         

        Nonketonic Hyperglycinemia (NKH) 

         

        Orotic Aciduria 

         

        5-Oxoprolinuria: Glutathione Synthetase Deficiency: 5-Oxoprolinase Deficiency (5OXOPRO) 

         

        Phenylketonuria (PKU) or Hyperphenylalaninemia 

         

        Propionic Acidemia: Propionyl-CoA Carboxylase Deficiency (PA or PROP) 

         

        6-Pyruvoyl-tetrahydropterin Synthase (PTPS) Deficiency 

          

        Sepiapterin Reductase (SR) Deficiency

         

        Short-Chain acyl-CoA Dehydrogenase (SCAD) Deficiency 

         

        Succinic Semialdehyde Dehydrogenase (SSDH) Deficiency 

         

        Tyrosine Hydroxylase (TH) Deficiency 

         

        Tyrosinemia Type I (TYR I) 

         

        Tyrosinemia Type II (TYR II) 

         

        Tyrosinemia Type III (TYR III) 

         

        Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency 

         

        Vitamin B-12 Disorders (Cobalamin Defects) 

         



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