Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Chen, Yao; Lin, Qingying; Zeng, Yanli; Qiu, Xiaolong; Liu, Guanghua; Zhu, Wenbin

doi:10.1002/mgg3.1583

Cited by 2 publications

(2 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Additionally, a national cross-sectional survey included 7 million newborns and reported a prevalence of 1:20,284 in mainland China [ 27 ], consistent with our study findings. Subgroup analysis revealed a significantly higher prevalence of PCD in southern China, particularly in the Fujian [ 17 , 28 , 29 ], Jiangxi [ 30 ], and Guangxi Provinces [ 31 , 32 ], indicating a geographical trend with higher prevalence in southern China and lower prevalence in northern China.…”

Section: Discussionmentioning

confidence: 99%

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

Zhou,

Li,

Zeng

et al. 2024

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

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

Zhou,

Li,

Zeng

et al. 2024

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

show abstract

“…From the above-mentioned studies, we gathered individual molecular data that were available [ 58 , 64 , 72 , 73 , 78 , 80 , 83 , 86 , 89 , 92 , 96 , 98 , 101 , 103 , 104 , 107 , 110 ]. Genotype data were described for 175 newborns and C 0 levels on screening were mentioned for 132 of the newborns.…”

Section: Molecular Findingsmentioning

confidence: 99%

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Lefèvre

Labarthe

Dufour

et al. 2023

IJNS

View full text Add to dashboard Cite

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.

show abstract

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency

Cited by 2 publications

References 21 publications

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

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

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Contact Info

Product

Resources

About