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Updated: Jan 7, 2026

Quantification of Coenzyme A in Cells and Tissues
Published on: September 27, 2019
The acylcarnitine profile in patients with PKAN may mimic CPT1 deficiency
Emel Yılmaz-Gümüş1, Emine Genç1, Sebile Kılavuz1
1Marmara University School of Medicine, Department of Pediatrics, Division of Inherited Metabolic Diseases, Istanbul, Turkey.
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.
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