Newborn Metabolic Screening
NMS Disorder fact sheets
The following fact sheets outline the clinical features of each disorder. These are effective April 2007 and are in PDF 
- Biotinidase deficiency (BIOT)
- Carnitine Uptake Defect (CUD)
- Citrullinemia (CIT)
- Congenital Adrenal Hyperplasia (CAH)
- Congenital Hypothyoidism (CH)
- Cystic Fibrosis (CF)
- Glutaryl-CoA Dehydrogenase deficiency
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMG) deficiency
- Isovaleric Acidemia (IVA)
- Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency
- Maple Syrup Urine Disease (MSUD)
- Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency
- Methylmalonic Acidemia (MMA)
- Phenylketonuria (PKU)
- Propionic Acidemia (PA)
- Tri-functional Protein (TFP) deficiency
- Very Long Chain Acyl-CoA Dehydrogenase (VLAD) deficiency
