Elevated Metabolites	Associated Disorders	Commonly Asked Questions
Methionine	Homocystinuria, methionine adenosyl transferase I & III deficiencies
Phenylalanine	Phenylketonuria (PKU) or other hyperphenylalaninemias
C4 acylcarnitine	Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
C8 acylcarnitine	Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
C14, C14:1 acylcarnitines	Very Long Chain Acyl-CoA Dehydrogenase Deficiency
3-OH-C14 to C18:2 acylcarnitines	Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) or Trifunctional Protein Deficiency (TFPD)
CO/C14-18 ratio	Carnitine Palmitoyltransferase I (CPT I) Deficiency
C16 & C18:1 acylcarnitines	Carnitine Palmitoyltransferase II (CPT II) Deficiency or Carnitine Translocase Deficiency
Galactose	Galactosemia
Elevated C3 acylcarnitine	Propionic Acidemia(PA) or Methylmalonic Acidemia(MMA)
Elevated C5 acylcarnitine	Isovaleric Acidemia(IVA) or 2-methylbutyryl-CoA Dehydrogenase Deficiency
Elevated Leucine	Maple Syrup Urine Disease (MSUD)