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Understanding these predispositions through genetic testing can help your provider tailor timing and dosing rather than using a one-size-fits-all protocol
Lessard LM, Puhl RM
As a result, for newborns with low C0 levels detected in initial screening, it is necessary to perform tandem mass spectrometry testing and genetic testing on both the mother and the newborn to differentiate whether it is a maternally derived PCD in the newborn
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This deficiency can be present from birth, termed as primary systemic carnitine deficiency, or can arise as a secondary condition due to specific metabolic disorders
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