Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
10.3760/cma.j.cn511374-20250611-00358
- Author:
Peizhen ZHAO
1
;
Zhendong ZHAO
;
Haizhu XU
Author Information
1. Newborn Disease Screening Center, Hainan Women and Children Medical Center, Haikou, Hainan 570311, China. 542433239@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Infant, Newborn;
Neonatal Screening/methods*;
Female;
Male;
Lipid Metabolism, Inborn Errors/epidemiology*;
Acyl-CoA Dehydrogenase/genetics*;
China/epidemiology*;
Follow-Up Studies
- From:
Chinese Journal of Medical Genetics
2026;43(4):248-252
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.
METHODS:A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).
RESULTS:Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.
CONCLUSION:The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
