Metabolic Conditions Identified by Tests Listed

Argininosuccinic aciduriaaCobalamin C deficiencyCobalamin C deficiencyβ-ketothiolase deficiencyPyrimidine 5′nucleotidase superactivityAGAT deficiencyHurlerα-mannosidosis
CitrullinemiaaCobalamin D deficiencyCobalamin D deficiencyCobalamin A deficiencyMolybdenum cofactor type A deficiencyGAMT deficiencyHunterAspartylglucosaminuria
Citrullinemia, type IIaCobalamin F deficiencyCobalamin F deficiencyCobalamin B deficiencyCreatine transporter defectSanfilippo A, B, C
CPS deficiencyaCobalamin E deficiencyEthylmalonic encephalopathyCobalamin C deficiencySly (MPS VI)
ArgininemiaaCobalamin G deficiencyIsovaleric acidemiaaCobalamin D deficiency
HHH syndromeMTHFR deficiencya3-methylcrotonyl glycinuriaCobalamin F deficiency
Maple syrup urine disease, variantHomocystinuriaPPAaEthylmalonic encephalopathy
NAGS deficiencyaTyrosinemia, type IIGA, type I
MTHFR deficiencyaGA, type II
OTC deficiencyaHMG-CoA Lyase deficiency
PKUHolocarboxylase synthetase deficiency
PDH complex deficiencyHomocystinuria
Tyrosinemia, type IIIsovaleric acidemiaa
3-methylcrotonyl glycinuria
3-methylglutaconic aciduria
MHBD deficiency
SCOT deficiency
SSADH deficiency
Tyrosinemia, type II
  • Adapted from van Karnebeek and Stockler.41

  • Acylcarn, acylcarnitine profile; CPS, carbamyl phosphate synthetase; GA, glutaric acidemia; HHH, hyperornithinemia-hyperammonemia-homocitrullinuria; HMG-CoA, 3-hydroxy-3-methylglutaryl-coenzyme A; MHBD, 2-methyl-3-hydroxybutyryl CoA dehydrogenase; MMA, methylmalonic acidemia; MTHFR, methylenetetrahydrofolate reductase; NAGS, N-acetylglutamate synthase; OTC, ornithine transcarbamylase; PAA, plasma amino acids; PDH, pyruvate dehydrogenase; P-HCY, plasma homocysteine; PKU; phenylketonuria; PPA, propionic acid; SCOT, succinyl-CoA:3-ketoacid CoA transferase; SSADH, succinic semialdehyde dehydrogenase; UGAA/creat; urine guanidino acid/creatine metabolites; UMPS, urine mucopolysaccharides qualitative screen (glycosaminoglycans); UOA, urine organic acids; UOGS, urine oligosaccharides; UPP, urine purines and pyrimidines.

  • a Late-onset form of condition listed; some conditions are identified by more than 1 metabolic test.