Kachroo Kavita, NithiyaVathani Johnson Annie, Moinudeen S A K, Sharma Jitendra, Holly Cheryl
Kalam Institute of Health Technology: A JBI Affiliated Group, Visakhapatnam, Andhra Pradesh, India.
The Northeast Institute for Evidence Synthesis and Translation, Rutgers School of Nursing, A JBI Center of Excellence, Newark, NJ, USA.
JBI Evid Synth. 2025 Jan 1;23(1):143-149. doi: 10.11124/JBIES-23-00540. Epub 2025 Jan 2.
This systematic review examines the evidence on the incidence and prevalence of inborn errors of metabolism (IEMs) in low- and middle-income countries (LMICs).
IEMs are a set of conditions that can either be inherited or result from spontaneous mutations. Although each condition is rare in isolation, various specific disorders within the IEM group have an estimated global prevalence of 50.9 per 100,000 live births. A precise estimate of the prevalence and incidence of IEMs in LMICs can help determine the necessity for extensive newborn screening programs.
This review will cover studies conducted in LMICs, reporting on IEMs in infants and children under the age of 5 years. Studies that calculate birth prevalence and incidence of IEMs will be included. Studies that provide information on the causes, clinical characteristics, treatment, case fatality rates, mortality rates, and other outcomes will also be considered.
The databases to be searched include PubMed, MEDLINE (Ovid), Embase (Ovid), CINAHL (EBSCOhost), Scopus, and gray literature sources. No date or language restrictions will be applied. Our search will encompass analytical and descriptive observational studies, which will be critically appraised by 2 independent reviewers. Data will be extracted using JBI data extraction tools. If sufficient data are available, a meta-analysis will be performed. Alternatively, if data are limited, we will present our findings in narrative format using tables and figures.
PROSPERO CRD42023457421.
本系统评价旨在考察低收入和中等收入国家（LMICs）先天性代谢缺陷（IEMs）的发病率和患病率证据。
IEMs是一组可遗传或由自发突变导致的病症。尽管每种病症单独来看都很罕见，但IEMs组内各种特定疾病的全球估计患病率为每10万活产儿50.9例。准确估计LMICs中IEMs的患病率和发病率有助于确定广泛开展新生儿筛查项目的必要性。
本评价将涵盖在LMICs开展的、报告5岁以下婴幼儿IEMs情况的研究。计算IEMs出生患病率和发病率的研究将被纳入。提供病因、临床特征、治疗、病死率、死亡率及其他结局信息的研究也将被考虑。
将检索的数据库包括PubMed、MEDLINE（Ovid）、Embase（Ovid）、CINAHL（EBSCOhost）、Scopus和灰色文献来源。不设日期或语言限制。我们的检索将涵盖分析性和描述性观察性研究，由2名独立评审员进行严格评估。将使用JBI数据提取工具提取数据。如果有足够的数据，将进行荟萃分析。否则，如果数据有限，我们将使用表格和图表以叙述形式呈现研究结果。
PROSPERO CRD42023457421。
