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Carnitine palmitoyltransferase I deficiency: MedlinePlus Genetics Biallelic variants in BBOX1 cause L Carnitine deficiency and elevated butyrobetaine npj Genomic Medicine Signs & Symptoms of L Carnitine Deficiency What are the symptoms of carnitine (L carnitine) deficiency? Healthy A review published in Molecules examined clinical research on L carnitine supplementation in people with autism spectrum disorder (ASD). L carnitine plays an important role in mitochondrial energy metabolism, and altered carnitine
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