High concentrations of NAAG were detected in 29 CSF samples out of 32 samples of patients with a clinical presentation of PMD. NAA was elevated in three CSF samples.

Figure 1 shows the NAAG concentrations in CSF of PMD patients compared with controls (CTRL), OLD, CD, and ULD groups. The mean NAAG concentration in the CSF of PMD patients was 43.45 ± 40.63 (median value = 32.99, range 0-203.58). It differed significantly from the control group (p < 0.00001), from the OLD group (p < 0.00001), the ULD group (p < 0.00009), and the CD patients (p < 0.008) (see table 1).

NAAG was normal in CSF of all patients, except three, with unclassified leukodystrofies. NAAG was also normal in the CSF of the patients with Alexander disease, VWMD, MLD, and PKU. Conversely, NAAG was elevated in the CSF of the CD patients together with elevation of NAA because of the aspartoacylase deficiency, as we already reported10. NAA was in the normal range in the CSF samples of ULD patients, except four cases.

NAAG concentration in CSF

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