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Fatty acid oxidation, carnitine, ketone metabolism defects / Long chain fatty acid oxidation defects

Patient/family experienceSymptomsNewborn screening Diet/treatment

This video provides brief testimonials from multiple patients and/or their parents (from multiple countries), all impacted by long-chain fatty acid oxidation disorders, including very long chain acyl CoA dehydrogenase (VLCAD) deficiency, long chain acyl CoA dehydrogenase (LCHAD) deficiency, and carnitine palmitoyltransferase (CPT) II deficiency. They talk about their symptoms, the challenges posed by their conditions, and how they have learned to understand their disorders to best cope with their life situations.

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