Table 1.
Biochemical findings
| Glycine | Plasma (μM) | Urines (μM) | CSF (μM) |
| 530 (181–293) | 3077 (43–173) | 43 (1–16) | |
| Redox status | Lactate (mM) | Pyruvate (mM) | Pyruvate/Lactate |
| Fasting | 1 (0.6-1.9) | 94 (50–140) | 10, 5 (<10) |
| Post-prandial | 2.5 (0.6-1.9) | 221 (50–140) | 11 (<10) |
| Mitochondrial enzymatic activities | Muscle | Fibroblasts | |
| CI | 9 (9–13) | NA | |
| CII | 6 (20–42) | 4, 11-19 | |
| CIII | 67 (61–132) | 60 (33–67) | |
| CIV | 59 (81–171) | 51 (41–81) | |
| PDHc | NA | 98 (1372–3104) | |
| CS | 34 (76–140) | 42 (31–65) | |
| CIV/CS | 1.74 (1.1-1.9) | 1.21 (0.9-1.6) | |
| CIV/CII | 9.83 (3.4-6.1) | 12.75 (2.7-5.3) | |
| CIV/CI | 6.56 (10.5-20.9) | NA | |
| CII/CS | 0.18 (0.25-0.41) | 0.10 (0.24-0.38) | |
| AKGDH | 5.4 (4–9) | 0.3 (4–9) | |
Concentration of lactate, pyruvate and glycine in body fluids and mitochondrial enzymatic activities at 27 years of age. Abnormal concentrations are highlighted in bold. Normal values in brackets. CSF = cerebrospinal fluid, CS = citrate synthase, CI = complex I, CII = complex II, CIV = complex IV, PDHc = pyruvate dehydrogenase complex (PDHc) and AKGDH = α-ketoglutarate dehydrogenase.