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Disorders Reliably Detected in Newborns by MS/MS Technology
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Amino Acid Disorders
- Argininosuccinic Aciduria (ASA Lyase Deficiency)
- Citrullinemia (ASA Synthetase Deficiency)
- Homocystinuria
- Hypermethioninemias
- Maple Syrup Urine Disease (MSUD)
- Phenylketonuria (PKU) and other hyperphenylalaninemias
- Tyrosinemias
Fatty Acid Oxidation Disorders *
- Carnitine/Acylcarnitine Translocase Deficiency
- 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD)
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Acidemia-Type II)
- Neonatal Carnitine Palmitoyl Transferase Deficiency-Type II (CPT-II)
- Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
- Trifunctional Protein Deficiency (TFP Deficiency)
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
Organic Acid Disorders *
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
- Glutaric Acidemia-Type I (GA I)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
- 3-Methylglutaconyl-CoA Hydratase Deficiency
- Methylmalonic Acidemias (MMA)
- Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency)
- Propionic Acidemia (PA)
- Multiple-CoA Carboxylase Deficiency
* The screen for some fatty acid oxidation & organic acid disorders is less sensitive after the age of seven days.
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