A pilot experiment in neonatal screening for primary carnitine deficiency

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.


Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening. Lin Y, Lin B, Chen Y, et al. Orphanet J Rare Dis. 2021 Dec 4;16(1):503.