A comprehensive study has provided valuable insights into the prevalence and genetic spectrum of Primary Carnitine Deficiency (PCD) in China, revealing significant regional disparities. The findings could have substantial implications for newborn screening programs and healthcare strategies aimed at optimizing market access to diagnostic and therapeutic resources for this rare genetic disorder.
Detailed Analysis of PCD Prevalence
Through an extensive review of 1,889 articles, researchers included data from 22 studies encompassing nearly 10 million newborns. The analysis identified 476 cases of PCD, with 469 of these undergoing genetic diagnosis. The results indicated a national prevalence rate of 0.05‰, or approximately 1 in 20,000 newborns. However, a marked regional variation was observed, with higher incidence rates in southern China (0.07‰) compared to northern China (0.02‰). This disparity underscores the importance of region-specific health policies and market access strategies to ensure equitable healthcare delivery.
Genetic Variant Spectrum
The genetic analysis revealed 107 different variants of the SLC22A5 gene among the 934 alleles studied. The most frequent variants were c.1400C>G (45%), c.51C>G (26%), c.760C>T (14%), c.338G>A (6%), and c.428C>T (5%). Interestingly, the c.1400C>G variant showed a significantly lower frequency in southern China (39%) compared to northern China (79%). These findings highlight the critical need for tailored genetic screening programs that consider regional genetic diversity to improve market access to appropriate diagnostic tools.
The research, utilizing databases such as PubMed, Embase, Web of Science, and Chinese databases up to November 2023, aimed to provide a comprehensive understanding of PCD, a rare autosomal recessive disorder affecting fatty acid oxidation. The study’s systematic approach and robust data extraction methods lend credibility to its findings, offering a valuable epidemiological perspective on this condition.
Key Findings and Implications
The study’s key findings include:
- National PCD prevalence rate of 0.05‰, with significant regional variations.
- Higher PCD incidence in southern China (0.07‰) compared to northern China (0.02‰).
- Identification of 107 different SLC22A5 gene variants, with the most common being c.1400C>G.
- Significant regional differences in the frequency of the c.1400C>G variant.
These insights are crucial for developing targeted screening and intervention strategies, ensuring equitable healthcare access across different regions.
The study concludes that systematic analysis of PCD prevalence and genetic variants provides essential epidemiological insights. The regional disparities in PCD incidence and genetic variant distribution necessitate tailored screening programs and healthcare policies. Such measures will enhance market access to diagnostic and therapeutic resources, ultimately improving health outcomes for newborns at risk of PCD.
Original Article:
Orphanet J Rare Dis. 2024 Jul 3;19(1):248. doi: 10.1186/s13023-024-03267-x.
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