Öz

Objective: Organic acidemias (OAs) are metabolic disorders characterized by enzyme deficiencies that impair amino acid catabolism, leading to metabolic imbalances. Essential fatty acids (EFAs), particularly Omega-3 and Omega-6, are vital for cellular and neurological functions but are often affected by protein-restricted diets used in OA management. The aim of this study was to evaluate the plasma EFA levels in OA patients and explores their clinical relevance.

Materials and Methods: A prospective, case-control design was adopted, including 26 OA patients (methylmalonic acidemia, propionic acidemia, isovaleric acidemia, maple syrup urine disease) and 22 healthy age- and gender-matched controls. Plasma EFA levels were quantified via gas chromatography-mass spectrometry. Cognitive and psychiatric evaluations were performed using standardized tests, including DSM-V-TR criteria, Wechsler Intelligence Scale for Children, and other psychometric tools. Statistical analyses assessed the relationships between EFA levels and clinical findings.

Results: Organic acidemias patients exhibited significantly lower levels of docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA) + DHA, and Omega-3 compared to controls, with higher Omega-6/Omega-3 ratios. Despite these findings, no significant correlations emerged between EFA levels and cognitive or psychiatric outcomes.

Conclusion: EFA deficiencies are prevalent among OA patients on protein-restricted diets, underscoring the potential need for targeted nutritional interventions. However, the absence of a direct association with clinical findings suggests multifactorial influences on disease outcomes. Future research should explore the longitudinal effects of EFA supplementation and its role in mitigating neurodevelopmental impairments in OA.

Anahtar Kelimeler: Docosahexaenoic acid, essential fatty acids, metabolic disease, omega-3

Kaynakça

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Nasıl atıf yapılır

1.
Kılıç EK, Ünal Ö, Çelebier K, Zengin A, Uğur C, Kalaycı F, et al. The role of essential fatty acid deficiencies in cognitive function among patients with organic acidemias. Turk J Pediatr Dis. 2026;Early View:1-6. https://doi.org/10.12956/TJPD.2025.1300