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IEM Disorder List

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1st Step will screen for the following Inborn Errors of Metabolism (also known as Metabolic Disorders) by Tandem Mass Spectrometry and Biochemical Analysis. Newborns are screened from a dried blood spot, ideally collected within 24 to72 hours of birth.

Disorders Detected by Tandem Mass Spectrometry

Acylcarnitine Profile - Fatty Acid Oxidation Disorders
Carnitine / Acylcarnitine Translocase Deficiency 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency Medium Chain Acyl-CoA Dehydrogenase Deficiency Neonatal Carnitine Palmitoyl Transferase Deficiency Type II Very Long Chain Acyl-CoA Dehydrogenase Deficiency		Carnitine Palmitoyl Transferase Deficiency Type I `1` 2,4-Dienoyl-CoA Reductase Deficiency `1` Multiple Acyl-CoA Dehydrogenase Deficiency Short-chain Acyl-CoA Dehydrogenase Deficiency Trifunctional Protein Deficiency Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency

Acylcarnitine Profile - Organic Acid Disorders
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Glutaric Acidemia Type I Isobutyryl-CoA Dehydrogenase Deficiency Isovaleric Acidemia 2-Methylbutyryl-CoA Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Methylglutaconyl-CoA Hydratase Deficiency		Methylmalonic Acidemias » Methymalonyl-CoA Mutase Deficiency » Some Adenosylcobalamin Synthesis Defects » Maternal Vitamin B12 Deficiency Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Propionic Acidemia Multiple CoA Carboxylase Deficiency Malonic Aciduria

Amino Acid Profile - Amino Acid Disorders
Argininemia Argininosuccinic Aciduria 5-Oxoprolinuria `1` Carbamoylphosphate Synthetase Deficiency `1` Citrullinemia Homocystinuria Hypermethioninemia Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome `1` Hyperornithinemia with Gyral Atrophy `1`		Maple Syrup Urine Disease Phenylketonuria »Classical / Hyperphenylalaninemia » Biopterin Cofactor Deficiencies Tyrosinemia » Transient Neonatal Tyrosinemia » Tyrosinemia Type I `1` » Tyrosinemia Type II » Tyrosinemia Type III

Other
Hyperalimentation Medium Chain Triglyceride Oil Administration Treatment with Benzoate, Pyvalic Acid, or Valproic Acid		Liver Disease Presence of EDTA coagulants in blood specimen Carnitine Uptake Deficiency
`1` There is a lower probability of detection of this disorder during the immediate newborn period.

Disorders Detected by Other Technologies