P036: Unveiling psychopathology in congenital disorders of glycosylation: A comprehensive study using patient records, questionnaires, and literature review

C18:2-OH levels were significantly lower in LCHAD patients compared to TFP (0.165 M vs 0.061 M, p=0.03, t-test).Additionally, LCHAD patients exhibited elevated levels of C12 and C14 species, while TFP patients showed higher levels of C16 and C18 species.Conclusion: These findings suggest that specific acylcarnitine species C2, C12, C14, C16 and C18 species could serve as key markers to differentiate between LCHAD and TFP deficiencies and early detection and differentiation is essential for acute management, long-term prognosis, and genetic counseling.TFP deficiency may require different interventions, particularly for severe neonatal cardiac symptoms, while LCHAD is associated with chronic cardiomyopathy, liver dysfunction, and retinopathy.This study underscores the potential of acylcarnitine profiling as a diagnostic tool for differentiating LCHAD and TFP deficiencies.Identifying specific acylcarnitine markers can improve diagnostic accuracy, reduce the incidence of false-negative results, and enhance patient care by enabling earlier detection and more targeted therapeutic interventions.Further validation in larger cohorts is needed to confirm the clinical utility of these markers, contributing to the refinement of diagnostic techniques for mitochondrial fatty acid oxidation disorders.