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Carnitine palmitoyltransferase I deficiency: MedlinePlus Genetics 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 Biallelic variants in BBOX1 cause L Carnitine deficiency and elevated butyrobetaine npj Genomic Medicine L Carnitine Carnitine Transporter Deficiency
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