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It also contributes to accelerated skin aging and can lead to the development of skin cancer (114)

It was not until the development of an in-vitro carnitine uptake assay on cultured fibroblast, a clear-cut definitive diagnosis of CUD could be made.2 However, in-vitro functional assay has many limitations and the most obvious one is the unavailability of living fibroblast as fibroblast culture from skin biopsy is not a routine investigation that is readily available

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282 A subsequent open label study was conducted in 31 patients from the original study with persistently mild to markedly elevated liver enzymes

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doi: 10.1038/s41598-019-49533-y 53