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Tag: Acylcarnitines

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Biochemical Findings in Carnitine Deficiency

2 min read
According to the Orphanet Journal of Rare Diseases, plasma free carnitine levels can be extremely reduced, often falling below 5 μM in individuals with systemic primary carnitine deficiency. Understanding the biochemical findings in carnitine deficiency is vital for accurate diagnosis and effective management, which can prevent severe clinical consequences.