Evidence map›Paper›PMID 41716778›Full record

ArticleMolecular genetics and metabolism reports2026

Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD).

GuLing Qian, Chen Liu, YanHua Xu, Duo Zhou, Chi Chen, BenQing Wu, XinWen Huang

Abstract read
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Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

GuLing QianDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
Chen LiuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
YanHua XuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
Duo ZhouDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
Chi ChenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.
BenQing WuChildren's Medical Center, Shenzhen Guangming District People's Hospital, # 39, Huaxia Road, Guangming District, Shenzhen, Guangdong, China.
XinWen HuangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases; #3333, Binsheng Road, Binjiang District, Hangzhou, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: This study aimed to delineate the neonatal screening landscape, incidence, tandem mass spectrometry (MS/MS)-based metabolic signatures, ACADS gene variant spectrum, and long-term clinical outcomes of short-chain acyl-CoA dehydrogenase deficiency (SCADD) in newborns from Zhejiang Province, China. Methods: A retrospective cohort study was conducted on 4,667,883 newborns in Zhejiang screened between November 2013 and August 2025. Acylcarnitine profiles in dried blood spots were analyzed by MS/MS. Urinary organic acids and ACADS gene variants were detected via gas chromatography-mass spectrometry (GC-MS) and high-throughput sequencing, respectively. Confirmed SCADD patients underwent longitudinal follow-up to evaluate growth, neurodevelopment, and biochemical parameters. Results: Initial screening identified 500 infants with elevated butyrylcarnitine (C4) or C4/ propionylcarnitine (C3) ratios; 89 were confirmed as SCADD, corresponding to an incidence of 1 in 52,448 (1.9 per 100,000). All patients were asymptomatic during the neonatal period. Among the 26 patients who underwent urinary GC/MS, 25 (96.2%) presented with elevated ethylmalonic acid (EMA) levels. Fifty-one ACADS variants were identified, with missense variants (46/51, 90.2%) being the most prevalent; the top three variants were c.1031 A > G (28.1%), c.164C > T (13.5%), and c.1130C > T (11.2%). Conclusions: The incidence of SCADD in Zhejiang is 1 in 52,448, with c.1031 A > G and c.164C > T as the most frequent ACADS variants; and most screen-detected SCADD cases remain asymptomatic.

Indexed as

ACADS geneButyryl carnitine (C4)Clinical follow-upIncidenceNeonatal screeningShort-chain acyl-CoA dehydrogenase deficiency (SCADD)Tandem mass spectrometry (MS/MS)

Identifiers

PMID41716778
PMCPMC12914845

What Socratic holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.