Skip to main content

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)
  1. 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.