Evidence map›Paper›PMID 32793418›Full record

ArticleMolecular genetics and metabolism reports2020

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

A Maguolo, G Rodella, A Dianin, R Nurti, I Monge, E Rigotti, G Cantalupo, L Salviati, S Tucci, F Pellegrini and 11 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 3 pooled it
2.9field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

27 citing papers in PubMed, 3 syntheses or guidelines pooled it, 28 citations in OpenAlex.

  1. Guideline
  2. Pooled it
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  4. [Screening and genetic variation analysis of fatty acid oxidation disorder in neonates in Qingdao City].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
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  20. One potential hotspotFrontiers in pediatrics · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors at 4 institutions in 2 countries.

A MaguoloDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
G RodellaDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
A DianinDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
R NurtiDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
I MongeDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
E RigottiDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
G CantalupoDepartment of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, Division of Child Neuropsychiatry, University of Verona, Verona, Italy.
L SalviatiClinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padua, Italy.
S TucciLaboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
F PellegriniNeonatal Intensive Care unit, Azienda Sanitaria Alto Adige, Bolzano, Italy.
G MolinaroNeonatal Intensive Care unit, Azienda Sanitaria Alto Adige, Bolzano, Italy.
F LupiNeonatal Intensive Care unit, Azienda Sanitaria Alto Adige, Bolzano, Italy.
P ToninDepartment of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
A PasiniDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
N CampostriniDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
F Ion PopaDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
F TeofoliDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
M VincenziDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
M CamilotDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, AOUI, Verona, Italy.
G PiacentiniDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
A BordugoDepartment of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
University of Verona · ITAzienda Ospedaliera Universitaria Integrata Verona · ITCittà della Speranza Foundation · ITUniversity of Freiburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and genetic characterization and to evaluate a five years' experience of NBS, in the attempt to figure out the complexity of genotype-phenotype correlation and to confirm the clinical impact of NBS in our centre experience. MATERIALS AND

methodsWe analysed FAODs patients diagnosed either by NBS or clinically, followed since February 2014 to April 2019 at the Regional Screening Centre and Inherited Metabolic Diseases Unit of Verona. Diagnosis was confirmed by plasma acylcarnitines, urinary organic acids, enzymatic and genetic testing. For not clear genotypes due to the presence of variants of uncertain significance, in silico predictive tools have been used as well as enzymatic activity assays. Patients underwent clinical, nutritional and biochemical follow up.

resultsWe diagnosed 30 patients with FAODs. 20 by NBS: 3 CUD, 6 SCADD, 5 MCADD, 4 VLCADD, 2 MADD. Overall incidence of FAODs diagnosed by NBS was 1:4316 newborns. No one reported complications during the follow up period. 10 patients were diagnosed clinically: 2 CUD, 2 CPT2D, 1 VLCADD, 5 MADD. Mean age at diagnosis was 29.3 years. Within this group, complications or symptoms were reported at diagnosis, but not during follow-up. 12 mutations not previously reported in literature were found, all predicted as pathogenic or likely pathogenic. DISCUSSION AND

conclusionsOur study highlighted the great phenotypic variability and molecular heterogeneity of FAODs and confirmed the importance of a tailored follow up and treatment. Despite the short duration of follow up, early identification by NBS prevented diseases related complications and resulted in normal growth and psycho-motor development as well.

Indexed as

ALT, Alanine aminotransferaseAST, Aspartate aminotransferaseCACTD, carnitine-acylcarnitine translocase deficiencyCK, creatine kinaseCPT1/2 D, carnitine palmitoyl-CoA transferase 1/2 deficiencyCUD, carnitine uptake defectDBS, dried blood spotsDNA, Deoxyribonucleic acidEnzymatic activityExpanded newborn screeningFAODs, fatty acid oxidation disordersFatty acid oxidation defectsHypoglycaemiaLCHADD, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyMADD, multiple acyl-CoA dehydrogenase deficiencyMCADD, medium-chain acyl-CoA dehydrogenase deficiencyMyopathyNBS, newborn screeningNGS, next generation sequencingPCR, polymerase chain reactionSCADD, short chain acyl-CoA dehydrogenase deficiencySynergistic heterozygosityTFPD, trifunctional protein deficiencyTMS, tandem mass spectrometryVLCADD, very-long-chain acyl-CoA dehydrogenase deficiency

Identifiers

PMID32793418
PMCPMC7414009
OpenAlexW3047137203

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.