P1* | P2† | P3‡ | P4 | ||||||
Age at sampling | 11 y | 12 y | 8 d | 6 w | 5 d | NA | |||
Pyridoxine dosage (mg/day) | 300, 2 SD | 300, 2 SD | 24 hours after SD of 100 mg i.v. | 2 weeks on 100 mg/day, 2 SD | No | ||||
PLASMA | |||||||||
Amino acids (µmol/L) | Ref. | Ref. | Ref. | NA | |||||
Alanine | 330 | 416 | 152–508 | 445 | 549 | 100–439 | 209 | 195–675 | |
Valine | 244 | 253 | 142–278 | 131 | 185 | 60–294 | 134 | 120–560 | |
Isoleucine | 68 | 66 | 38–94 | 67 | 89 | 28–95 | 32 | 35–175 | |
Leucine | 126 | 132 | 76–168 | 168 | 150 | 45–160 | 82 | 90–290 | |
Glycine | 190 | 217 | 148–324 | 574 | 350 | 60–380 | 326 | 105–445 | |
Phenylalanine | 54 | 59 | 38–78 | 32 | 60 | 23–75 | 61 | 25–145 | |
Proline | 171 | 280 | 75–307 | 434 | 310 | 50–298 | 140 | 120–620 | |
Tyrosine | 64 | 66 | 40–92 | 58 | 107 | 20–120 | 76 | 50–210 | |
Others metabolites | NA | NA | |||||||
PA (µmol/L) | 1.67 | 0.22–3.72 | 0.8 (4 y) | 0.22–3.72 | |||||
AASA (µmol/L) | 0.1 | ||||||||
CSF | |||||||||
Amino acids (µmol/L) | 39 cells/mL | Ref. | NA | NA | |||||
Lactate (mmol/L) | 1.33 | 1.1–1.8 | |||||||
Alanine | 53.7 | 59 | 23–39.5 | ||||||
Valine | 43.7 | 33.1 | 14.8–22.5 | ||||||
Isoleucine | 13.8 | 15.1 | 4.6–8.6 | ||||||
Leucine | 35.6 | 29.3 | 11.0–18.7 | ||||||
Glycine | 12.5 | 11.5 | 3.5–9.3 | ||||||
Phenylalanine | 22.6 | 13.9 | 7.0–13.2 | ||||||
Proline | NA | NA | |||||||
Tyrosine | 21.9 | 30 | 7.1–21.5 | ||||||
Homocarnosine | NA | NA | |||||||
Neurotransmitters (nmol/L) | Ref. | NA | NA | ||||||
HVA | 918 | 484–1446 | |||||||
5-HIAA | 386 | 302–952 | |||||||
3-ortho-Methyldopa | 6 | <310 | |||||||
L-Dopa | nd | <15 | |||||||
5-OH-Tryptophane | 13 | <20 | |||||||
5-MTHF | 158 | 62–287 | |||||||
Free GABA | 48§ | 17–67 | |||||||
Total GABA | 7340§ | 4200–13400 | |||||||
URINE | |||||||||
AASA | 0.1 | NA | NA | NA | |||||
Organic acids | normal | normal | NA | NA |
*Samples measured at the Department of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich.
† Samples measured at the Division of Inherited Metabolic Diseases, University of Heidelberg.
‡Samples measured at the Department of Pediatrics, Vrije Universiteit Amsterdam.
§Samples measured at the Institute Giannina Gaslini, Genova.
Abnormal values are given in bold.
AASA, alpha-aminoadipic semialdehyde; CSF, cerebro spinal fluid; d, days; GABA, gamma-aminobutyric acid; 5-HIAA, 5-hydroxyindoleacetic acid; HVA, homovanillic acid; 5-MTHF, 5-methyltetrahydrofolate; NA, not available; PA, pipecolic acid; SD, single dosage; w, weeks; y, years.
Abnormal values are given in bold.