Akademik Veri Yönetim Sistemi
Molecular genetics and metabolism, cilt.147, sa.1, ss.109713, 2026 (SCI-Expanded, Scopus)
BACKGROUND: Coenzyme A (CoA), synthesized from pantothenate, is an essential cofactor required for numerous pivotal enzymatic reactions. Abnormal acylcarnitine profiles similar to those observed in carnitine palmitoyltransferase 1 (CPT1) deficiency have been reported in patients with coenzyme A synthetase (COASY)-related diseases and phosphopantothenoylcysteine synthetase (PPCS) deficiency. To the best our knowledge, a CPT1-like acylcarnitine profile has not yet been reported in patients with pantothenate kinase-associated neurodegeneration (PKAN). We aimed to evaluate whether the acylcarnitine profile could serve as a diagnostic clue for PKAN. METHODS: All patients diagnosed with PKAN and followed at our center were included in the study. Clinical, biochemical, and genetic data were retrospectively extracted from medical records. RESULTS: The study cohort comprised five patients from five unrelated families. Three patients presented with classic PKAN, while two had atypical PKAN. CPT1-like acylcarnitine profiles were detected in patients with classic PKAN. Two patients exhibited elevated C0 and C0/(C16+C18) ratios; in one case, these values returned to normal during follow-up. In the third patient, only the C0/(C16 + C18) ratio was elevated, while C0 remained within the normal range. Different genetic variants were detected in our patients. CONCLUSION: Elevated C0 and/or elevated C0/(C16 + C18) ratio may serve as a diagnostic clue for PKAN, similar to other inherited disorders of CoA biosynthesis.