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Rare mutations in the SLC22A5 gene can cause a genetic condition called primary carnitine deficiency, which is usually discovered in infancy because it affects brain function, muscle function, and blood glucose levels

Nonketotic hypoglycemia: an early indicator of systemic carnitine deficiency

If a laboratory director is made aware of a case that has been reported as condition not suspected, in some cases (PKU and MCADD) this should be reported as a serious incident to the Trust and regional SQAS team in accordance with the managing safety incidents in NHS screening programmes guidance

Additional file 8: Table S3

Most of the current studies on depression have found that the levels of free carnitine and several short-chain acylcarnitines decreased in patients with depression