Introduction
Methods
Sample collection
Results
Overview of analyte findings and reproducibility of metabolomic analyses
Disorder | Total specimens (unique patients) | Important missing biomarkers | Disease related analytes¶
|
---|---|---|---|
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency | 4 (4) | 3-methylcrotonylglycine, hydroxyisovaleroylcarnitine, beta-hydroxyisovalerate, alpha-hydroxyisovalerate, isovalerylglycine, carnitine(−) | |
Argininosuccinic acid lyase (AL) deficiency | 2 (2) | Citrulline, argininosuccinate(R), creatine(−) | |
Argininemia | 4 (4) | Arginine, N-acetylarginine, homoarginine, 4-guanidinobutanoate, orotate, ornithine(−) | |
Cobalamin-related disorders | 6 (6) | Homocysteine, methylmalonate, cobalamin | 2-methylmalonyl carnitine, propionylcarnitine, 2-methylcitrate |
Citrullinemia | 9 (7) | Citrulline, 3-ureidopropionate, uridine, homocitrulline, | |
Glutaric aciduria type 1 (GA type1) | 5 (5) | Glutaroylcarnitine, glutarate | |
Guanidinoacetate methyltransferase (GAMT) deficiency | 8 (8) | Guanidinoacetate | None |
3-OH-3methylglutaryl (HMG) CoA lyase deficiency | 2 (2) | 3-methylglutaroylcarnitine, hydroxyisovaleroylcarnitine, glutaroylcarnitine, beta-hydroxyisovalerate, isovalerylcarnitine | |
Holocarboxylase deficiency | 1 (1) | 3-methylcrotonylglycine, hydroxyisovaleroylcarnitine, beta-hydroxyisovalerate, 3-hydroxypropanoate, propionylcarnitine, 2-methylcitrate, propionylglycine, alanine | |
Homocystinuria | 2 (1) | Homocysteine, S-adenosylmethionine | Methionine, 5-methylthioadenosine, S-adenosylhomocysteine |
Isovaleric aciduria | 2 (2) | Isovalerylglycine, isovalerylcarnitine, isovalerate, beta-hydroxyisovalerate(−) | |
Lysinuric protein intolerance (LPI) | 2 (2) | Glutamine, lysine(−), ornithine(−), arginine(−) | |
Maple syrup urine disease (MSUD) | 18 (7) | Allo-isoleucine, 4-methyl-2-oxopentanoate, 3-methyl-2-oxovalerate, leucine, 2-hydroxy-3-methylvalerate, isoleucine, alpha-hydroxyisovalerate, 3-hydroxyisobutyrate(−), isovalerylcarnitine (−), 2-methylbutyroylcarnitine(−), hydroxyisovaleroylcarnitine (−) | |
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) | 2 (2) | Hexanoylglycine, N-octanoylglycine, caproate, octanoylcarnitine, hexanoylcarnitine, caprylate, suberate, sebacate, 5-hydroxyhexanoate, (see Table S1 for full list) | |
Methylmalonic aciduria (MMA) | 9 (7) | Methylmalonate | 2-methylmalonyl carnitine, propionylcarnitine, 2-methylcitrate, 2-methylbutyroylcarnitine, butyrylcarnitine, tiglyl carnitine, hydroxyisovaleroylcarnitine, glycine, 3-hydroxypropanoate |
Ornithine transcarbamoylase deficiency (OTC) | 19 (14) | Disease-related findings were mitigated by clinical management at the time of sampling. Instead, treatment-related compounds phenylacetate, phenylacetylglutamine were elevated in the majority of specimens. | |
Propionic aciduria (PA) | 9 (8) | Propionylglycine, 3-hydroxypropanoate, propionylcarnitine, 2-methylcitrate, glycine, hydroxyisovaleroylcarnitine, tiglyl carnitine, 2-methylmalonyl carnitine(−), succinylcarnitine(−) | |
Phenylketonuria (PKU) | 8 (8) | Phenylalanine, phenyllactate, gamma-glutamylphenylalanine, phenylpyruvate, N-acetylphenylalanine | |
Thymidine phosphorylase deficiency (MNGIE) | 2 (2) | Thymidine(R), 2’-deoxyuridine, 5,6-dihydrothymine(−) | |
Trimethyllysine hydroxylase epsilon deficiency (TMHLE) | 4 (4) | N-6-trimethyllysine, deoxycarnitine(−) | |
Very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) | 2 (2) | Tetradecenoylcarnitine, tetradecadienoylcarnitine | Myristoylcarnitine, stearoylcarnitine, palmitoylcarnitine, oleoylcarnitine |