Table 1 Biochemical findings
From: New spastic paraplegia phenotype associated to mutation of NFU1
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) | |