Evidence map›Paper›PMID 41133698›Full record

ArticleInternational journal of neonatal screening2025

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.

Margherita Ruoppolo, Cristina Cereda, Teresa Giovanniello, Sabrina Malvagia, Sara Boenzi, Francesca Teofoli, On Behalf Of The Simmesn Italian Newborn Screening Group, Alberto Burlina

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Article in International journal of neonatal screening, 2025. 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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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Margherita RuoppoloDepartment of Molecular Medicine and Medical Biotechnology, University of Naples, Federico II, 80131 Naples, Italy.ORCID 0000-0002-7364-0602
Cristina CeredaCenter of Functional Genomics and Rare Diseases, 'V. Buzzi' Children's Hospital, 20154 Milan, Italy.ORCID 0000-0001-9571-0862
Teresa GiovannielloDepartment of Experimental Medicine, Newborn Screening Center-Clinical Pathology Unit, University Hospital Policlinico Umberto I, Sapienza University, Rome, Italy, 00161 Rome, Italy.
Sabrina MalvagiaNewborn Screening, Clinical Biochemistry and Clinical Pharmacy Laboratory, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.
Sara BoenziDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9153-4950
Francesca TeofoliDepartment of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, 37129 Verona, Italy.ORCID 0000-0001-9925-5342
On Behalf Of The Simmesn Italian Newborn Screening Group
Alberto BurlinaDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padua, 35128 Padua, Italy.ORCID 0000-0001-7724-137X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation that can have life-threatening consequences if not promptly treated. Early diagnosis by means of newborn screening (NBS) has the potential to reduce morbidity and mortality. This study investigates the incidence and molecular characteristics of MCADD in Italy over a five-year period within the framework of the expanded NBS program. Between January 2019 and December 2023, a total of 1,976,473 newborns were screened. Ninety unrelated neonates were diagnosed with MCADD, providing an estimated incidence of 1/21,960 live births (95% CI: 1:17,780-1:27,200), comparable to rates reported in other Mediterranean populations. Molecular analysis identified c.985A>G (p.Lys329Glu) as the most frequent pathogenic

Indexed as

ACADM geneACADM variantsacylcarnitinefatty acid oxidation disorderLC-MS/MSMCADDnewborn screening

Identifiers

PMID41133698
PMCPMC12550940

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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 OpenQuestion graph.