Chinese clinicians from Fujian province screened 49 cases of primary carnitine deficiency at birth using a biochemical technique (tandem mass spectrometry). This neuromuscular condition is indeed treatable by lifelong carnitine supplementation administered orally. In this study:
- screening involved 548,247 children born in the province between 2014 and 2021,
- the additional genetic tests following the confirmation biochemical assays revealed a more common pathological variant than the others, c.760C>T (p.254*),
The free carnitine level may initially be low and then normalize spontaneously, which should not rule out the diagnosis. Genetic studies take on their full meaning in this context.