Page Heading

Sub Heading


Disorders Detected By Tandem Mass Spectrometry

With the development of tandem mass spectrometry in the early 1990s, the number of detectable diseases has increased, especially in the categories of Fatty Acid Oxidation Disorders & Organic Acid Disorders. Screening tests for the disorders listed below (and an increasing number of others) are now available, though not universally mandated.

1.  Hemoglobinopathies

 Hemoglobin S-Beta Thalassemia
 Hemoglobin S/C Disease
 Beta Thalassemia Major
 Hemoglobin E Beta Thalassemia
 Sickle Cell Disease



2.  Biochemical Panel

 Biotinidase Deficiency
 Congenital Adrenal Hyperplasia
 Congenital Hypothyroidism
 Cystic Fibrosis
 Galactosemia
 G6PD



3.  Aminoacidopathies

 Homocystinuria
 Hypermethioninemia
 Hyperphenylalaninemia
 Maple Syrup Urine Disease
 Phenylketonuria (biopterin Cofactor defects of regeneration and biosynthesis)
 Tyrosinemia Type I
 Tyrosinemia Type II
 Tyrosinemia Type III



4.  Fatty Acid Oxidation Disorders

 Carnitine/Acylcarnitine Translocase Deficiency
 Carnitine Palmitoyl Transferase Deficiency Type II
 Carnitine Uptake Defect
 2,4 Dienoyl-CoA Reductase Deficiency
 Glutaric Acidemia Type II
 Long Chain 3-Hydroxyacyl-CoA Dehydrogenase
 Medium Chain Acyl-CoA Dehydrogenase Deficiency
 Medium-Short Chain Hydroxyl Acyl-CoA Dehydrogenase Deficiency
 Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
 Trifunctional Protein Deficiency
 Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCHAD)


4.  Fatty Acid Oxidation Disorders

 Carnitine/Acylcarnitine Translocase Deficiency
 Carnitine Palmitoyl Transferase Deficiency Type II
 Carnitine Uptake Defect
 2,4 Dienoyl-CoA Reductase Deficiency
 Glutaric Acidemia Type II
 Long Chain 3-Hydroxyacyl-CoA Dehydrogenase
 Medium Chain Acyl-CoA Dehydrogenase Deficiency
 Medium-Short Chain Hydroxyl Acyl-CoA Dehydrogenase Deficiency
 Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
 Trifunctional Protein Deficiency
 Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCHAD)



5.  Organic Acidemias

 Glutaryl CoA Dehydrogenase Deficiency
(Glutaric Acidemia Type I)
 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
 Iso-valeryl-CoA Dehydrogenase Deficiency (Isovaleric Acidemia)
 3-Methylcrontonyl-CoA Carboxylase Deficiency
 3-Methylglutaconyl-CoA Hydratase Deficiency
 2-Methyl-3-hydroxybutryrl-CoA Dehydrogenase Deficiency
 Methylmalonic Acidemia Cbl A and Cbl B
 Methylmalonic Acidemia Cbl C and Cbl D
 Methylmalonic Acidemia, Mutase Deficiency
 Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
 Multiple CoA Carboxylase Deficiency
 Propionyl-CoA Carboxylase Deficiency (Propionic Acidemia)
 Severe Combined Immune Deficiency (SCID)



6.  Urea Cycle Disorders

 Argininosuccinic Acidemia
 Citrullinemia Type I
 Citrullinemia Type II