Table 1.
Biochemical profile of the patient and of two patients with antiquitin deficiency during pyridoxine treatment for comparison. α-AASA: alpha-aminoadipic semialdehyde dehydrogenase; 5-HIAA: 5-hydroxyindole-3-acetic acid; HVA: homovanillic acid; MHPG: 3-methoxy-4-hydroxyphenylglycol.
| Patient | Antiquitin patient 1 | Antiquitin patient 2 | Reference value | |
|---|---|---|---|---|
| Urine (mmol/mol kreat) | ||||
| AASA | 0.5 | 0.0–2.0 | ||
| CSF (nmol/l) | ||||
| Pipecolic acid | 0.07 | 0.00–0.10 | ||
| Pyridoxal 5′-phosphate | 21 | 178 | 44 | 11–46 |
| Pyridoxal | 297 | 11,107 | 3667 | 5–106 |
| Pyridoxine | 13,000 | 1324 | 14,101 | 5–11 |
| Pyridoxamine | 5100 | 64 | 13 | n.d. |
| Amino acids (μmol/l) | ||||
| Glycine | 8.2 | 3.0–8.3 | ||
| Threonine | 52.6 | 15.0–130.0 | ||
| Homocarnosine | 4.3 | 5.5–12.0 | ||
| Neurotransmitters (nmol/l) | ||||
| HVA | 1091 | 445–2228 | ||
| 5-HIAA | 729 | 593–1653 | ||
| MHPG | 104 | 85–306 | ||
| 3-O-methylDOPA | 299 | 108–506 | ||
| Plasma | ||||
| Pipecolic acid, μmol/l | 1.0 | 0.1–7.0 | ||
| Lactate, mmol/l | 0.9 | 0.0–2.3 | ||
| Pyruvate, mmol/l | 0.06 | 0.00–0.13 | ||