Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China | Synapse
March 3, 2026
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China
Puntos clave
Evidence shows unique genetic mutation distribution affecting metabolic characteristics in the population.
A total of 25 distinct mutations were identified in patients from the Ganzhou area, emphasizing genetic diversity.
Analysis of sample data revealed associations between specific mutations and clinical metabolic traits in patients.
These findings may inform localized screening and treatment strategies for primary carnitine deficiency.