Abstract
ABSTRACT: Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with “hepatic” and one with “muscular” symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell fines from four patients, two from each group. Overall CPT activity was deficient in patients' fibroblasts with the hepatic presentation, as previously demonstrated in patients' fibroblasts with the muscular presentation. The hepatic patients' fibroblasts displayed a CPT, deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmitate oxidation were normal in muscular patients' fibroblasts. In these latter patients, the mutation presumably involved CYT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities.
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Demaugre, F., Bonnefont, JP., Mitchell, G. et al. Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities. Pediatr Res 24, 308–311 (1988). https://doi.org/10.1203/00006450-198809000-00006
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DOI: https://doi.org/10.1203/00006450-198809000-00006
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