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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 






        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 




        Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH) 









        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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                  Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease
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                  Dallas, Texas 75226

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