Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future
Abstract
:1. Introduction
2. Biosynthesis of Catecholamines, Serotonin, and Pterins
2.1. Metabolism and Biosynthesis of Catecholamines
2.2. Biosynthesis and Metabolism of Serotonin
2.3. Biosynthesis and Metabolism of Pterins
3. Diagnostic Methods
3.1. Quantification of Catecholamines and Catecholamine Metabolites
3.1.1. Pre-processing of Biological Fluids
3.1.2. Pre-Processing of Tissue Samples
3.1.3. Chromatographic Columns, Mobile Phases, and Detection Used
3.1.4. Analysis of Catecholamines in CSF
3.1.5. Analysis of Catecholamines in Urine
3.1.6. Analysis of Catecholamines in Blood Samples
3.1.7. Enzyme Activity Assays
3.2. Quantification of Pterins
3.2.1. Pre-Processing of Biological Fluids
3.2.2. Pre-Processing of Tissue Samples
3.2.3. Chromatographic Columns, Mobile Phases, and Detection Used
3.2.4. Analysis of Pterins in CSF
3.2.5. Analysis of Pterins in Urine
3.2.6. Analysis of Pterins in Blood Samples
3.2.7. Enzyme Activity Assays
4. Pitfalls
4.1. Pre-Analytical and Methodological Pitfalls
4.2. Diagnostic Pitfalls
5. Conclusions and Future Perspective
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
Appendix A
References
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Matrix | Volume (mL) | Sample Preparation | Solvent | Analytes | Ref. |
---|---|---|---|---|---|
Human CSF | 1.0 | Dilution | 6 mM L-cysteine/2 mM oxalic acid/1.3% glacial acetic acid | DA; DOPAC; HVA; HT; HIAA | [37] |
6th–8th mL | Dilution | 0.03% formic acid | L-Dopa; 3-MT; HVA; HIAA; MHPG; 5-HTP | [38] | |
2nd tube (400th–800th µL) | Dilution; filtration | NA | HVA; 5-HIAA; 3-OMD; MHPG; 5-HTP | [39] | |
50 µL | Dilution; filtration | 250 nM 2,5-dihdroxybenzoic acid; 5000 MWCO PES Vivaspin 500 filter | HVA; 5-HIAA; 3-OMD; 5-HTP; MHPG | [40] | |
Human plasma | 0.5 | SPE | Water/acetonitrile (40:60, v/v) with 2.5% formic acid | NE; E | [27] |
0.5 | PP, TFC | 10% TCA; A: Water/0.1% perfluoroheptanoic acid; B: Water/acetonitrile (40:60, v/v); C: Isopropanol/acetone/acetonitrile (1:1:1) with 0.3% formic acid; D: Water/5 mM ammonium acetate/50% acetonitrile | NMN/MN | [41] | |
0.2 | SPE | Acetonitrile with 2% formic acid | NMN; MN | [42] | |
0.5 | SPE | Water/acetonitrile (40:60, v/v) | NMN; MN | [43] | |
0.1 | SPE | Water/acetonitrile (5:95, v/v) with 2% formic acid | NMN; MN; 3-MT | [44] | |
0.015 | Dilution | 10 mM glutathione/10 mM citric acid/100 mgL−1 EDTA pH4.5 | DA; NE; E; NMN; MN; 3-MT | [45] | |
0.5 | PP/filtration | 1.2 M perchloric acid | L-Dopa; DA; DOPAC | [46] | |
0.5 | SPE | Aqueous solution (10.5 g L−1 citric acid/20 mg L−1 EDTA)/acetonitrile (98:2, v/v); pH 2.8, 1 M NaOH | L-Dopa; DA; NE; E; DHPG | [47] | |
0.02 | SPE | 0.6 M potassium chloride/acetonitrile (2:3, v/v) | DA; NE; E | [48] | |
0.5 | SPE | 10.5 g L−1 citric acid/20 mg L−1 OSA/20 mg L−1 EDTA/methanol (97.5:2.5, v/v) pH 2.9, 1 M NaOH | DA; NE; E; | [24] | |
0.5 | SPE | 10.5 g L−1 citric acid/20 mg L−1 OSA/20 mg L−1 EDTA/methanol (95:5, v/v) pH 3.5, 1 M NaOH; MHPG: methanol | DA; NE/E; MHPG | [29] | |
0.1/0.5 | LLE | Ammonia buffer/heptane mixture; 80 mM acetic acid/octanol; MHPG: Ethyl acetate | DA; NE; E; MHPG (free and conjugated) | [49] | |
Human urine | 0.25 | SPE | Water/methanol (95:5, v/v) with 2% formic acid | NMN; MN | [50] |
3.0 | SPE | Water/acetonitrile (20:80, v/v) with 1% formic acid | DA; NE; E | [51] | |
0.04 | Filtration | NR | L-Dopa; DA; NE; E, MN | [52] | |
20 | PBA affinity column | 0.1 M phosphate buffer/1 mM EDTA/300 mg L-1 SOS/ methanol (10:1, v/v), pH 2.5 | DA/NE/E | [53] | |
0.02 | SPE | 50 mM potassium dihydrogenphosphate/2.5 mM OSA/0.1 g L-1 EDTA/acetonitrile (96.5:3.5, v/v); pH 3.5, phosphoric acid | DA; NE; E | [25] | |
5.0 | SPE | 6 M acetic acid | DA/NE/E | [54] | |
0.3 | LLE | Ammonia buffer/heptane mixture; 166 mM aqueous acetic acid/1-octanol | DA/NE/E | [55] | |
1.0 | SPE | 1 M acetic acid | DA; NE; E | [30] | |
5.0 | Bio-Rex 70 resin | 4 M formic acid | DA; NE; E; NMN; MN | [56] | |
5.0 | Bio-Rex 70 resin | 4 M formic acid | DA; NE; E; NMN; MN | [57] | |
0.5 | LLE | Ammonia buffer/heptane mixture; 80 mM acetic acid/1-octanol; MHPG: Ethyl acetate | DA; NE; E; MHPG (free and conjugated) | [49] | |
Amniotic fluid | 0.2 | Dilution | 20 mM phosphate buffer; pH 3.0; 0.5 mM heptasulfonic acid; 0.12 mM EDTA; 0.28% perchloric acid; 15% methanol | HIAA; HVA | [58] |
Matrix | Technique | Analytes | Sample Preparation | Internal Standard | Column | Mobile Phase | Elution | Detection | Ref. |
---|---|---|---|---|---|---|---|---|---|
Human CSF | HPLC | DA; DOPAC; HVA; 5-HT; 5-HIAA | Dilution | NR | ESA MD-150 C18 | 75 mM monobasic sodium phosphate buffer/0.5 mM EDTA/0.81 mM OSA/5% tetrahydrofuran/acetonitrile (95:5, v/v) pH 3.1; phosphoric acid | Isocratic | Coulometric | [37] |
HPLC | DA; NE; DOPAC; HVA; MHPG; 5-HT; 5-HIAA | Direct injection dialysate | NR | Luna C18 | 0.2 M phosphate buffer pH 5.0 | Isocratic | Amperometric | [84] | |
HPLC | 3-OMD; HVA; 5-HIAA; MHPG; 5-HTP | Dilution, filtration | 3-OMD, HVA; 5-HIAA; MHPG; 5-HTP | ODS (C18) | 0.1 M sodium acetate; 0.1 M citric acid; 1.2 mmol/l EDTA, 1.2 mmol/l 1-heptanosulfonic acid; 75 mL methanol; adjusted to pH 4.0 | Isocratic | Coulometric | [39] | |
UHPLC | HVA; 5-HIAA; 3-OMD; 5-HTP; MHPG | Direct injection | HVA; 5-HIAA; MHPG; 3-OMD; 5-HTP | ACQUITY UPLC HSS T3 | 0.05 M citrate buffer; pH 5.2; methanol (97:3, v/v) | Isocratic | Coulometric; FL ex: 350 nm; em: 450 nm | [40] | |
Human plasma | LC | NE; E | SPE | d6-NE; d6-E | C18 | A: 10 mM ammonium formate in water; B: Methanol | Gradient | MS/MS; [positive ionization electrospray] | [27] |
LC | NMN; MN | PP; TFC | d3-NMN; d3-MN | Hypercarb PGC | A: 50 mM ammonium formate/1% formic acid in water; B: 0.1% formic acid in acetonitrile; C: Isopropanol/acetone/acetonitrile (9:2:9, v/v/v); D: 0.1% perfluoroheptanoic acid in water | Gradient | MS/MS; [positive ionization electrospray] | [41] | |
UHPLC | NMN; MN | SPE | d3-NMN; d3-MN | Atlantis HILIC | A: Acetonitrile; B: 200 mM ammonium formate pH 3.0 | Gradient | MS/MS; [positive ionization electrospray] | [42] | |
LC | NMN; MN | SPE | d3-NMN; d3-MN | Hypercarb PGC Hypersil Gold HILIC | A: 50 mM ammonium formate/1% formic acid in water; B: 0.1% formic acid in acetonitrile; C: Isopropanol/acetone/acetonitrile (9:2:9, v/v/v) A: 100 mM ammonium formate/acetonitrile (5:95, v/v) pH 3.2; B: Acetonitrile/water/100 mM ammonium formate (50:45:5, v/v/v) pH 3.2 | Gradient | MS/MS; [positive ionization electrospray] | [43] | |
HPLC | NMN; MN; 3-MT | SPE | d3-NMN; d3-MN; d4-3-MT | Atlantis HILIC | A: 100 mM ammonium formate in water pH 3.0; formic acid; B: Acetonitrile | Gradient | MS/MS; [positive ionization electrospray] | [44] | |
HPLC | DA; NE; E; NMN; MN; 3-MT | Dilution | MHBA | Unison UK-C18 | 75 mM potassium acetate buffer/100 mM potassium phosphate buffer/8 mM sodium 1-hexanesulfonate/acetonitrile (93.1:4.9:2, v/v/v); pH 3.2 | Isocratic | CL; [TDPO/H2O2] | [45] | |
HPLC | L-DOPA; DA; DOPAC; 3-O-MD; Carbidopa | PP/Filtration | DHBA | ESA HR-80 C18 | Modified CAT-A-PHASE buffer: Phosphate buffer/patented ion-pairing agent/methanol/acetonitrile (99.7:0.3, v/v); pH 3.2; 2 N NaOH | Isocratic | Coulometric | [46] | |
HPLC | L-DOPA; DA; NE; E; DHPG | SPE | DHBA | Deverosil RPAQUEOUS-AR-5 C30 | Aqueous solution of 10.5 g L−1 citric acid/20 mg L−1 EDTA/acetonitrile (98:2, v/v); pH 2.8; 1 M NaOH | Isocratic | Amperometric | [47] | |
HPLC | DA; NE; E; MHPG | SPE | DHBA | Microsorb C8 | 10.5 g L−1 citric acid/20 mg L−1 EDTA/20 mg L−1 OSA/methanol (95:5, v/v); pH 3.5; 1 M NaOH | Isocratic | Amperometric | [29] | |
HPLC | DA; NE; E | SPE | DHBA | Rainin C8 | 25 mM citric acid/20 mg L−1 EDTA/20 mg L−1 OSA/methanol (97:3, v/v) pH 2.9; 1 M NaOH | Isocratic | Amperometric | [28] | |
HPLC | DA; NE; E | SPE | IPT | TSK gel ODS-120 T | 120 mM imidazole buffer/methanol/acetonitrile (13:4:18, v/v/v) pH 5.8 | Isocratic | CL | [48] | |
HPLC | DA; NE; E | SPE | DHBA | Jones Apex C8 | 10.5 g L−1 citric acid/20 mg L−1 EDTA/20 mg L−1 OSA/methanol (97.5:2.5, v/v); pH 2.9; 1 M NaOH | Isocratic | Coulometric | [24] | |
HPLC | NE; E | LLE | DHBA | Hypersil ODS | 9.02 g sodium acetate/0.372 g EDTA/100 mg SDS/methanol (85:15) or (80:20) pH 5.1; glacial acetic acid | Isocratic | Amperometric | [85] | |
Human urine | LC | NMN; MN | SPE | d3-NMN d3-MN | Ultra II PFP propyl | 0.2% formic acid/methanol (95:5, v/v) | Isocratic | MS/MS; [positive ionization electrospray] | [50] |
HPLC | L-DOPA; DA; NE; E; MN; 5-HT; tryptophan; andderivative | Filtration | NR | Fluofix-II 120E | Water/acetonitrile/trifluoroacetic acid (40:60:0.05, v/v/v) | Isocratic | FL; [PFOEI]; ex: 280 nm; em: 320 nm | [52] | |
HPLC | L-DOPA; DA; NE; E; DOPAC | Dilution | IPT | Kromasil C18 | A: Methanol; B: 0.1 M sodium acetate buffer pH 5.0; acetic acid | Gradient | FL; [DPE]; ex: 350 nm; em: 480 nm | [86] | |
HPLC | DA; NE; E | SPE | NR | ZIC-HILIC; BEH-amide | 6.5 mM ammonium formate/acetonitrile (25:75, v/v) pH 3.0; 6.5 mM ammonium formate/acetonitrile (15:85, v/v) pH 3.0 | Isocratic | Coulometric | [51] | |
LC | NMN; MN | SPE | d3-NMN d3-MN | Atlantis T3 C18 | A: 10 mM ammonium formate/1% formic acid; B: Methanol | Gradient | MS/MS; [positive ionization electrospray] | [59] | |
HPLC | DA; NE; E | SPE | d4-DA; d3-NE; d3-E | Allure PFP propyl | A: 25 mM ammonium formate in water pH 3.0; formic acid; B: Methanol | Gradient | MS/MS; [positive ionization electrospray] | [26] | |
HPLC | DA; NE; E | PBA affinity column | NR | Nucleosil C18 | 0.1 M phosphate buffer/1 mM EDTA/300 mg L−1 SOS/methanol (10:1, v/v) pH 2.5 | Isocratic | Amperometric | [53] | |
HPLC | DA; NE; E | SPE | NR | Lichrosorb LC-8 C8 | 50 mM potassium dihydrogen phosphate/500 mg L−1 SDS/250 mg L−1 EDTA/100 mL L−1 methanol/ 200 mL L−1 acetonitrile pH 3.5; orthophosphoric acid | Isocratic | CL; [luminol–I2] | [60] | |
HPLC | DA; NE; E | SPE | DHBA | RECIPE reversed-phase | 50 mM potassium dihydrogen phosphate/2.5 mM OSA/0.1 g L−1 EDTA/acetonitrile (96.5:3.5, v/v) pH 3.5; phosphoric acid | Isocratic | Amperometric | [25] | |
HPLC | DA; NE; E | SPE | DHBA | Hypersil-BDS | 50 mM acetate buffer/0.11 mM EDTA/1.1 mM OSA/methanol (85:15, v/v) pH 4.7; 8.5 M acetic acid | Isocratic | FL [TbCl3]; ex: 300 nm; em: 545 nm | [54] | |
HPLC | DA; NE; E | LLE | d4-DA; d3-NE; d3-E | Allure Basix | 6.5 mM aqueous formic acid/tetrahydrofuran (2:3, v/v) | Isocratic | MS/MS; [positive ionization electrospray] | [55] | |
HPLC | DA; NE; E | SPE | DHBA | Luna C18 | 50 mM dihydrogen phosphate buffer/500 mg L−1 SDS/250 mg L−1 EDTA/100 mL L−1 methanol/200 mL L−1 acetonitrile pH 2.9; 6 M orthophosphoric acid | Isocratic | Coulometric | [30] | |
HPLC | DA; NE; E; NMN; MN | LLE | DHBA | Spherisorb C8 | A: Acetonitrile; B: 3.0 g L−1 acetic acid solution | Gradient | FL; [FMOC-Cl]; ex: 263 nm; em: 313 nm | [74] | |
HPLC | DA; NE; E; NMN; MN | SPE | DHBA | Nova-Pak C18 | 50 mM ammonium formate; pH 3.0; formic acid | Isocratic | APcI-MS | [56] | |
HPLC | DA; NE; E; NMN; MN | Cation exchange resin | DHBA | Nova-Pak C18 | 200 mM NaH2PO4·H2O/0.2 g L−1 EDTA/4 mM sodium 1-heptanesulfonate/acetonitrile (97.8:2.2, v/v) pH 3.0; 1 M orthophosphoric acid | Isocratic | Amperometric | [57] | |
HPLC | NE; E; 5-HIs | Dilution/filtration | 5-HIA | Cosmosil 5C18 | 10 mM acetate buffer/acetonitrile (65:35, v/v) pH 6.0 | Isocratic | FL; [benzylamine]; ex: 345 nm; em: 480 nm | [80] | |
Amniotic fluid | HPLC | 5-HIAA; HVA | NA | NA | Hypersil 3MOS | 20 mM phosphate buffer; pH 3.0; 0.5 mM heptasulfonic acid; 0.12 mM EDTA; 0.28% perchloric acid; 15% methanol | Isocratic | Amperometric | [58] |
Deficiency | HVA | 5-HIAA | 3-OMD |
---|---|---|---|
Tyrosine hydroxylase | low | normal | normal |
AADC | low | low | high |
DBH | high | normal | normal |
Pterin deficiency (recessive) | low | low | normal |
Pterin deficiency (dominant) | normal to low | normal to low | normal |
DAT | high | normal | NR |
VMAT2 | normal | normal | NR |
Matrix | Volume (mL) | Sample Preparation | Solvent | Analytes | Ref. |
---|---|---|---|---|---|
Human CSF | 1 mL | Precipitation; oxidation | 33 mg TCA/1 mg DTT per mL CSF; 0.1 mL HCl (0.1 M)/0.2% iodione/0.4% potassium iodide; 1% ascorbic acid; 1 M HCl/1 mg MnO2 per 200 µL CSF | N; B | [38] |
30 µL | Stabilization; oxidation | DTT; DETAPAC | BH4; BH2; N; S | [108] | |
100 µL | Filtration | NA | BH4; BH2; DHN; B; N | [118] | |
3rd tube (800th–1200th µL) | Dilution; filtration | NA | BH4; BH2; N | [39] | |
50 µL | Dilution; filtration | 250 nM 2,5-dihdroxybenzoic acid; 5000 MWCO PES Vivaspin 500 filter | BH4; BH2; B; N; DHN | [40] | |
Human plasma | 400 µL | Precipitation; oxidation | 1 M TCA; 0.5% iodine/1% potassium iodide/0.2 M TCA, 1% ascorbic acid (biopterin); 6; sodium hydroxide/0.5% iodine/1% potassium iodide/0.2 M TCA; 1% ascorbic acid/6 M sodium hydroxide (BH4) | B; BH4 | [107] |
100 µL | Protein precipitation; derivatization; liquid phase extraction; drying; reconstitution | Ice-cold acetonitrile; 500 mM ammonium carbonate; benzoyl chloride; ethyl acetate; hexane; acetonitrile | BH4 | [119] | |
4 mL | Precipitation; oxidation; purification | 2N TCA/0.5% iodione/1% potassium iodide in 0.2 N TCA; Dowex 50 column | B; N | [110] | |
Human serum | 200 µL | Oxidation; deproteinization | 1 M HCl with 1 mg MnO2; Ultrafree (NMWL 10000) | B; N | [120] |
2 mL | Oxidation; ion exchange | I2 (5 g/L) in 0.2 M TCA or I2 (5 g/L) and KI (10 g/L) in 0.1 M NaOH; AGMP-50 (200–400 mesh (H+)) | B; N | [121] | |
3 mL | Filtration; oxidation; ion exchange; evaporation | 0.22 µM nylon mesh; 3 M TCA/2% iodione/4% potassium iodide; ISOLUTEENV; elution in acetonitrile/water (80/29, v/v); dissolved in mobile phase | PCA; X; N; M; ISO; P; 6-B; 7-B; 6-HMP | [122] | |
Dried blood spots | 4 blood spots | Extraction; sonication; ultrafiltration | 250 µL 20 mM HCl; Ultrafree (NMWL 10000) | N; B; ISO; P | [123] |
2 blood spots | Extraction; sonication; ultrafiltration | 250 µL 20 mM HCl; Ultrafree Nanosep 10 Ω | B; N | [124] | |
Erythrocytes | NA | Washing; lysis; deproteinization; oxidation | 154 mM NaCl; water; 1.84 M TCA; 1 M HCl with 1 mg MnO2 | B; N | [120] |
Human urine | 500 µL | Oxidation; filtration | 6 M HCl/10 mg MnO2 | P; ISO; 6-B; 7-B; 6-N; 7-N | [125] |
100 µL | Oxidation; filtration | 4% potassium iodide/2% iodine solution (w/v) | 6-B; 6-HMP; N; P; ISO; X | [126] | |
400 µL | Oxidation; filtration | A: 2 M NaOH, iodide/iodine solution; B: 5 mM KMnO4 | B; N; P; PCA; 6,7 DMP; ISO; X; 6-HMP | [127] | |
100 µL | Filtration | A: Lugol’s solution (4% iodide/2% iodine solution (w/v)), B: MnO2; C: Potassium permanganate | P; X; 7,8-DX; ISO; 6-B; S; N; M; 6-CP; 6-HMP; 6,7-DMP; 6-MP; 6-HLU; 7-HLU; 6-FP; L | [128] | |
100 µL | Acidification of urine; oxidation | 0.5% iodine/1% iodide in alkaline and acidic solution | B; N; P; BH4; BH2 | [129] | |
360 µL | Stabilization; filtration | 1% ascorbic acid; Nanosep 10Ω | S | [103] | |
500 µL | Dilution | Citrate buffer 10 mM; pH 5.5 | N; B; P; ISO | [113] | |
1 mL | Acidification; oxidation; extraction | 6N HCl; iodide/iodine solution (in 0.1 N NaOH or 0.1 N HCl); Dowex 50W X8, elution with 0.5 M NH4OH; Dowex 1 X8, elution in 1 N acetic acid | X; N; B; BH4 | [130] | |
500 µL | Acidification; oxidation | 6 M hydrochloric acid; MnO2 (10 mg); | B; N; M | [131] | |
1 µL (injection volume) | Dilution; SPE | 20× in 1% DTT | BH4; BH2; N; DHN | [132] | |
Amniotic fluid | 200 µL | Acidic oxidation; deproteinization | MnO2; 30% TCA | N; M; ISO; B; PR; P | [58] |
Oxidation; clean-up with ion exchange resin | Iodide/iodine at pH 1.0 | B; N | [133] | ||
200 µL | Oxidation; precipitation | 1 M hydrochloric acid; 2 m MnO2; 30% TCA | B; N | [134] | |
Cell lysates | 80 µL | Lysis and sonication | 0.2 M TCA, 50 mM ascorbic acid; 1 mM EDTA; 6.5 mM DTE | BH4; BH2; B | [117] |
150 µL | Lysis; oxidation; deproteinization | 50 mM Tris-HCl; pH 7.5; 1 mM DTT (lysis); acidic iodine (10 g/L) | B; N | [115] | |
350 µl per pellet | Lysis; sonication; protein isolation | 50 mM potassium phosphate buffer; pH 7.0; 0.2 mM PMSF; fast desalting column | N | [116] | |
NA | Lysis; sonication; deproteinization; oxidation | Extraction buffer (20 mM Tris-HCl, pH 7.4, 0.1 mM EDTA, 1 mM DTT, 10% glycerol, 0.1% Tween 20); 30% TCA; MnO2 (10 mg) with 0.2 M H3PO4 | B; N | [114] |
Matrix | Technique | Analytes | Sample Preparation | Internal Standard | Column | Mobile Phase | Elution | Detection | Ref. |
---|---|---|---|---|---|---|---|---|---|
Human CSF | HPLC | B; N | Dilution | NA | UltraPure Torsic Acid | 4.6 g/L NH4HPO4; pH 3.5 | Isocratic | FL; ex: 350 nm; em: 450 nm | [38] |
HPLC | N; BH4; BH2; S | Dilution | 15N-BH4; 15N-BH2; 15N-N | AAA-MS column | A: 0.1% formic acid/0.1% heptafluorobutyric acid in water; B: 0.1% formic acid in methanol | Gradient | MS/MS; [positive ionization electrospray] | [108] | |
HPLC | BH4; BH2; DHN; B; N | Dilution | LU | Atlantis dC18 | 0.005 M sodium citrate/methanol (97:3; v/v) | Isocratic | Post-column oxidation; FL: ex: 350 nm; em: 450 nm | [118] | |
HPLC | BH4; BH2; N | Dilution, filtration | BH4; BH2; N | ODS (C18) | 50 mM sodium acetate; 5 mM citric acid; 48 µM EDTA; 160 µM DTE | Isocratic | FL; ex: 360 nm; em: 440 nm (oxidized pterins); coulometric (reduced pterins) | [39] | |
UHPLC | BH4; BH2; B; N; DHN | Direct injection | BH2; B; N; DHN | ACQUITY UPLC HSS T3 | 0.05 M citrate buffer; pH 5.2 (pH 7.4 for BH4); methanol (97:3, v/v) | Isocratic | Coulometric, FL ex: 350 nm; em: 450 nm | [40] | |
Human plasma | HPLC | B; BH4 | Dilution | NA | Hypersil C18 | A: 15 mM potassium phosphate buffer; pH 6.45; B: Methanol | Gradient | FL; ex: 360 nm; em: 440 nm | [107] |
HPLC | BH4 | Derivatization | BH4-benzoyl chloride-d5 | HILIC polar imidazole column | A: Acetonitrile/water (15%/85%; v/v) with 0.2% formic acid; B: Acetonitrile with 0.2% formic acid | Gradient | MS/MS; [positive ionization electrospray] | [119] | |
HPLC | B; N | Dilution | N | Whatman 10 µm ODS; Partisil 10; µBondapak C18 | 5% or 20% methanol in water | Isocratic | FL; ex: 350 nm; em: 410 nm | [110] | |
Human serum | HPLC | B; N | Cation exchange resin | BH4; BH2 | Excalibur ODS | Methanol/water (15/85, v/v) | Isocratic | FL; ex: 370 nm; em: 418–700 nm | [121] |
HPLC | PCA; X; N; M; ISO; P; 6-B; 7-B; 6-HMP | Cation exchange | PCA; X; N; M; ISO; P; 6-B; 7-B; 6-HMP | Zorbax-Eclipse XDB C18 and Poroshell 120 | 2 mM ammonium formiate; pH 7.1 | Isocratic | FL; ex: 272 nm; em: 410 nm, 445 nm, 465 nm | [122] | |
Dried blood spots | HPLC | B; N; ISO; P | None | B; N; P | Pre column C8 Spherisorb; ODS-1 Spherisorb | 1.5mM potassium hydrogen phosphate buffer; pH 4.6/8% methanol (v/v) | Isocratic | FL; ex: 350 nm; em: 450 nm | [123] |
UPLC | B; N | Dilution | 13C5-N; D3-B | ACQUITY UPLC HSS T3 | A: 0.2% formic acid in water; B: 0.2% formic acid in methanol | Gradient | MS/MS; [positive ionization electrospray] | [124] | |
Human urine | HPLC | P; ISO; 6-B; 7-B; 6-N; 7-N | Dilution | BH4; P; ISO; 6,7-DMP | ZORBAX C18; LUNA amino; HILIC; AQUA C18 | Methanol/0.1% formic acid; acetonitrile/0.1% formic acid; water/0.1% formic acid/10 mM ammonium formiate | Isocratic | MS/MS; [negative ionization electrospray] | [125] |
HPLC | 6-B; 6-HMP; N; P; ISO; X | Dilution | 6-B; 6-HMP; N; P; ISO; X | Phenyl-hexyl column | A: 0.1% formic acid in H2O; B: 0.2% formic acid in acetonitrile | Gradient | MS/MS; [positive ionization electrospray] | [126] | |
HPLC | B; N; P; PCA; 6,7 DMP; ISO; X; 6-HMP | Dilution | B; N; P; PCA; 6,7 DMP; ISO; X; 6-HMP | LiChrospher C8 60 RP; Aquasil C18; HILIC Luna | A: 10 mM phosphate buffer, pH 7.0; B: Methanol (LiCrospher); A: 10 mM Tris-HCl, pH 6.8; B: Methanol (Aquasil); A: 100 mM ammonium acetate buffer pH 5.8; B: Acetonitrile (HILIC) | Gradient (LiCrospher; HILIC); isocratic (Aquasil) | FL; ex: 280 nm; em: 444 nm; UV: 215 nm and 254 nm | [127] | |
HPLC | P; X; 7,8-DX; ISO; 6-B; S; N; M; 6-CP; 6-HMP; 6,7-DMP; 6-MP, L; 6-HLU; 7-HLU; 6-FP; L | Dilution | P; X; 7,8-DX; ISO; 6-B; S; N; M; 6-CP; 6-HMP; 6,7-DMP; 6-MP; L; 6-HLU; 7-HLU; 6-FP; L | Luna | A: 0.025% (v/v) formic acid in 99% water/1% acetonitrile; B: Methanol | Gradient | MS/MS; [positive ionization electrospray] | [128] | |
HPLC | B, N, P, BH4, BH2 | 6-MP | RP 18 | Water/methanol (97/3, v/v) | Gradient | FL; ex: 350 nm; em: 410 nm | [129] | ||
HPLC | N; B; P; ISO | Post-column photo derivatization | BH4; BH2 | Pre-column: XDB-C18; Zorbax Eclipse XDB-C18 | Citrate buffer; pH 5.5/acetonitrile (98/2, v/v) | Isocratic | FL; ex: 272 nm; em: 445 nm; photometric: 256 nm | [113] | |
HPLC | S | X | Spherisorb S5 ODS1250 | A: 24 mM K2HPO4, pH 5.0; B: Methanol/water (70/30; v/v) | Gradient | FL; ex: 425 nm; em: 530 nm | [103] | ||
HPLC | X; N; B; BH4 | None | 6-MP | Partisil-10 SCX | 1 mM ammonium dihydrogen phosphate; pH 2.8/7% methanol/5% acetonitrile | Isocratic | FL; ex: 360 nm; em: 420 nm | [130] | |
HPLC | B; N; M | Dilution | B; M; N; P | Spherisorb S5 ODS | A: Methanol/water (3:97, v/v); B: Isopropanol/methanol/acetic acid (49:49:2, v/v/v); C: Isopropanol-methanol-water (1:1:8, v/v/v); D: 6.6 mM Na2HPO4/13.3 mM citric acid/0.06 mM Na2EDTA/1.4 mM octanesulphonic acid/10% methanol, pH 3.3; E: 6.6 mM Na2HPO4/13.3 mM citric acid/0.06 mM Na2EDTA/1.4 mM octanesulphonic acid/10% isopropanol, pH 3.3; F: 20 mM KH2PO4/0.85 mM octanesulphonic acid/0.1 mM Na2EDTA/1% methanol, pH 3.0 | Gradient (A, B, C for oxidized pterins); Isocratic (E, F for reduced pterins) | FL; ex: 350 nm; em: 450 nm (oxidized pterins); amperometric (reduced pterins) | [131] | |
UHPLC | BH4; BH2; N; DHN | SPE | BH4; BH2; N; DHN | BEH Amide column | 50 mM ammonium acetate; pH 6.8; acetonitrile (15:85, v/v) | Isocratic | FL; ex: 353 nm; em: 438 nm; UV detection (PDA detector) at 253 nm | [132] | |
Amniotic fluid | HPLC | B; N | Ion exchange resin | 6-MP | Partisil-10 SCX | 1 mM ammonium dihydrogen phosphate; pH 2.8/7% methanol/5% acetonitrile | Isocratic | FL; ex: 360 nm; em: 420 nm | [133] |
Cell lysates | HPLC | BH4; BH2; B | None | 15N-BH4; 15N-BH2; 15N-B | Poroshell 120 SB-C18 column | A: 150 mM acetic acid, 12 mM HFBA; B: 12 mM HFBA, methanol | Gradient | MS/MS; [positive ionization electrospray] | [117] |
HPLC | B; N | Deproteinization | B | Spherisorb C18 | ND | Gradient | FL; ex: 350 nm; em: 450 nm | [115] | |
HPLC | N | GTPCH activity assay | N | Inartsil ODS-3 | 10 mM sodium phosphate; pH 7.0/1 mM EDTA | Isocratic | FL; ex: 365 nm; em: 475 nm | [116] | |
HPLC | B; N | NA | NA | Econosphere C18 | 0.1 M sodium phosphate; pH 3.0/5% methanol | Isocratic | FL; ex: 350 nm; em: 450 nm | [114] |
Matrix | Analytes | arGTPCHD | adGTPCHD | PTPSD | DHPRD | SPRD | PCDD |
---|---|---|---|---|---|---|---|
Human urine | biopterin | low | low to normal | low | normal (to high) | normal | low to normal |
neopterin | low | low to normal | high | normal (to high) | normal | normal to high | |
xanthopterin | NR | NR | NR | (high) | NR | NR | |
primapterin | NR | NR | NR | normal | normal | high | |
sepiapterin | NR | NR | NR | NR | high | NR | |
Human CSF | biopterin | low | low | low | normal (to high) | normal (to high) | normal |
BH4 | low | low to normal | low | low to normal | low | NR | |
neopterin | low | low | high | normal | normal | normal | |
BH2 | (low) | NR | NR | normal (to high) | high | NR | |
primapterin | (normal) | NR | NR | NR | NR | NR | |
sepiapterin | (normal) | NR | NR | NR | high | NR | |
Dried blood spot | biopterin | low | low to normal | low | normal to high | normal | NR |
neopterin | low | low to normal | high | normal to high | normal | NR | |
primapterin | NR | NR | NR | normal | normal | NR |
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Jung-Klawitter, S.; Kuseyri Hübschmann, O. Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future. Cells 2019, 8, 867. https://doi.org/10.3390/cells8080867
Jung-Klawitter S, Kuseyri Hübschmann O. Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future. Cells. 2019; 8(8):867. https://doi.org/10.3390/cells8080867
Chicago/Turabian StyleJung-Klawitter, Sabine, and Oya Kuseyri Hübschmann. 2019. "Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future" Cells 8, no. 8: 867. https://doi.org/10.3390/cells8080867