RESUMO
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.
Assuntos
Carnitina , Hiperamonemia , Membro 5 da Família 22 de Carreadores de Soluto , Humanos , China/epidemiologia , Carnitina/deficiência , Recém-Nascido , Membro 5 da Família 22 de Carreadores de Soluto/genética , Hiperamonemia/genética , Hiperamonemia/epidemiologia , Hiperamonemia/diagnóstico , Cardiomiopatias/genética , Cardiomiopatias/epidemiologia , Doenças Musculares/genética , Doenças Musculares/epidemiologia , Mutação/genética , Triagem Neonatal/métodos , População do Leste AsiáticoRESUMO
Los errores innatos del metabolismo comprenden un amplio grupo de patologías, habitualmente con una alta morbimortalidad. Son poco conocidas por parte de la comunidad médica debido a su baja prevalencia, y las dificultades en su diagnóstico y tratamiento hacen que sea imprescindible su manejo en Unidades especializadas. La Unidad de Enfermedades Metabólicas del Hospital Ramón y Cajal fue pionera en el estudio de estos pacientes, y es hoy un referente ¡mundial en la asistencia e investigación en este campo (AU)
Inborn errors of metabolism are an extensive group of diseases that usually have high morbility and mortality. They are little known within the medical community due to their low prevalence, which coupled with the difficulties in their diagnosis and treatment make it indispensable for them to be handled in specialized units. The Metabolic Department of the Ramón y Cajal was a pioneer in the study of these patients and is nowadavs a worldwide recognized center in the treatment and investigation in this field (AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Doenças Metabólicas/epidemiologia , Doenças Metabólicas/prevenção & controle , Comissão Para Atividades Profissionais e Hospitalares/normas , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo/epidemiologia , Fenilcetonúrias/complicações , Fenilcetonúrias/epidemiologia , Hipoglicemia/epidemiologia , Hiperamonemia/epidemiologia , Unidades Hospitalares/organização & administração , Unidades Hospitalares/normas , Avaliação das Necessidades/organização & administraçãoRESUMO
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