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)