Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Abstract

Peroxisomal disorders (PD) are a heterogeneous group of rare diseases caused by a defect in peroxisome biogenesis or a disruption of a peroxisomal function at a single enzyme or at transporter level. The main biochemical markers for PD are very long-chain fatty acids (VLCFA). The aim of the study was to investigate the correlation of basic diagnostic parameter, i.e. VLCFA, with disease severity, determined through the survival time. We performed a retrospective study in patients with PD (n = 31; aged 1 week—21 years). Evaluation of VLCFA results from patients were as follows: 15 patients with classical Zellweger syndrome (ZS), 3 patients with mild outcome of ZS, 9 individuals with D-Bifunctional Protein Deficiency (DBP), and no specified results in the case of 4 patients. Patients with classical ZS had higher VLCFA levels, compared to individuals with mild form of ZS and also to patients with DBP; for C26:0/C22:0: 0.65±0.18; 0.11±0.09; 0.30±0.13 (P < 0.001) and for C26:0: 5.20±1.78; 0.76±0.46; 2.61±0.97[mg/mL] (P < 0.001) respectively. The only variable parameter, i.e. the one that determines the survival time of patients, was C26:0 (Chi2 = 19,311, P < 0.0001). Correlation coefficient between survival time and C26:0 level was statistically significant (r = -0.762), and the results showed that high levels of C26:0 were associated with short survival time.ConclusionVLCFA levels correlate with the severity of the clinical course of ZS, DBP and mild ZSD. The best predictive value for estimating the projected disease severity and survival time is a concentration of C26:0.