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Incidence of Inborn Errors of Metabolism in Newborn Infants: Five Years' Single-Center Experience, Jeddah, Saudi Arabia.

Authors :
Al Qurashi M
Alahmadi S
Mustafa A
Aga SS
Al Hindi M
Ahmed A
Mohammad H
ElSharabasy R
Abed S
AlThubaiti I
Alrashdi N
Source :
Clinical pediatrics [Clin Pediatr (Phila)] 2023 Dec; Vol. 62 (12), pp. 1523-1530. Date of Electronic Publication: 2023 Mar 30.
Publication Year :
2023

Abstract

Inborn errors of metabolism (IEMs) are inherited biochemical/metabolic disorders that are commonly present in the immediate neonatal period. The aim of this retrospective study was to determine the incidence and distribution of IEMs in newborn infants delivered in our hospital and to evaluate its outcome. A total of 16 494 (99.9%) newborn infants were screened for IEMs. We found 29 newborn infants diagnosed with IEMs, representing an incidence of 1 per ~569 live births and a cumulative incidence of 176 per 100 000 live births of the IEM-positive newborn infants. We detected 11 different types of IEMs, and the top 6 categories were endocrinopathies followed by carbohydrates disorders, vitamin-responsive disorders, organic acid defects, and ketogenesis and ketolysis defects. This study does reflect upon the importance of educating the general population about the perils of Consanguineous Marriages (CMs) in order to reduce related disorders significantly, especially in families who have a history of IEMs.<br />Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Details

Language :
English
ISSN :
1938-2707
Volume :
62
Issue :
12
Database :
MEDLINE
Journal :
Clinical pediatrics
Publication Type :
Academic Journal
Accession number :
37908170
Full Text :
https://doi.org/10.1177/00099228231163511