Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China

Key Points

• 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.