• 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

These are only the basic tests. The baby will be tested for 40+ tests. The detailed tests list will be provided by our representative.

• The screen for some fatty acid oxidation & organic acid disorders is less sensitive after the age of seven days.