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Meta-Analysis
. 2024 Jul 3;19(1):248.
doi: 10.1186/s13023-024-03267-x.

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

Jinfu Zhou #  1 , Guilin Li #  2 , Yinglin Zeng #  1 , Xiaolong Qiu  1 , Peiran Zhao  1 , Ting Huang  1 , Xi Wang  3 , Jinying Luo  4 , Na Lin  5 , Liangpu Xu  6
Affiliations
Meta-Analysis

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis

Jinfu Zhou et al. Orphanet J Rare Dis. .

Abstract

Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aimed to systematically analyze the incidence of PCD in China and delineate regional differences in the prevalence of PCD and SLC22A5 gene variants.

Methods: PubMed, Embase, Web of Science, and Chinese databases were searched up to November 2023. Following quality assessment and data extraction, a meta-analysis was performed on screening results for PCD among Chinese newborns.

Results: After reviewing 1,889 articles, 22 studies involving 9,958,380 newborns and 476 PCD cases were included. Of the 476 patients with PCD, 469 underwent genetic diagnosis, revealing 890 variants of 934 alleles of SLC22A5, among which 107 different variants were detected. The meta-analysis showed that the prevalence of PCD in China was 0.05‰ [95%CI, (0.04‰, 0.06‰)] or 1/20 000 [95%CI, (1/16 667, 1/25 000)]. Subgroup analyses revealed a higher incidence in southern China [0.07‰, 95%CI, (0.05‰, 0.08‰)] than in northern China [0.02‰, 95%CI, (0.02‰, 0.03‰)] (P < 0.001). Furthermore, the result of the meta-analysis showed that the frequency of the variant with c.1400C > G, c.51C > G, c.760C > T, c.338G > A, and c.428C > T were 45% [95%CI, (34%, 59%)], 26% [95%CI, (22%, 31%)], 14% [95%CI, (10%, 20%)], 6% [95%CI, (4%, 8%)], and 5% [95%CI, (4%, 8%)], respectively. Among the subgroup analyses, the variant frequency of c.1400C > G in southern China [39%, 95%CI, (29%, 53%)] was significantly lower than that in northern China [79‰, 95%CI, (47‰, 135‰)] (P < 0.05).

Conclusions: This study systematically analyzed PCD prevalence and identified common SLC22A5 gene variants in the Chinese population. The findings provide valuable epidemiological insights and guidance for future PCD screening effects in newborns.

Keywords: SLC22A5; Incidence; Meta-analysis; Neonatal screening; Primary carnitine deficiency; Variant.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flow chart of the study selection process
Fig. 2
Fig. 2
Meta-analysis of the incidence of PCD between southern and northern China
Fig. 3
Fig. 3
The schematic diagram shows the incidence of PCD in different provinces of China
Fig. 4
Fig. 4
Meta-analysis of the frequency of the c.1400C > G variant of the SLC22A5 gene between southern and northern China
Fig. 5
Fig. 5
Funnel plots for publication bias. A Funnel plot of the incidence of PCD. B Funnel plot of the frequency of the c.1400C > G variant of the SLC22A5 gene. C Funnel plot of the frequency of the c.51C > G variant of the SLC22A5 gene. D Funnel plot of the frequency of the c.760C > T variant of the SLC22A5 gene. E Funnel plot of the frequency of the c.428C > T variant of the SLC22A5 gene. F Funnel plot of the frequency of the c.338G > A variant of SLC22A5 gene
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