Evidence map›Paper›PMID 42650054›Full record

ArticleGenes2026

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk.

Albina Tummolo, Ornella Tabaku, Eleonora Meneleo, Ciro Leonardo Pierri, Anna De Grassi, Vito Di Tullio, Giulia Paterno, Donatella De Giovanni

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In one paragraph

Article in Genes, 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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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Albina TummoloDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.ORCID 0000-0001-8823-8061
Ornella TabakuDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.
Eleonora MeneleoDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.
Ciro Leonardo PierriDepartment of Pharmacy-Pharmaceutical Sciences, University of Bari "Aldo Moro", Via E. Orabona 4, 70125 Bari, Italy.ORCID 0000-0003-1816-548X
Anna De GrassiDepartment of Biosciences, Biotechnologies and Environment, University of Bari "Aldo Moro", Via E. Orabona 4, 70125 Bari, Italy.ORCID 0000-0001-7273-4263
Vito Di TullioDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.
Giulia PaternoDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.
Donatella De GiovanniDepartment of Inherited Metabolic Disorders and Clinical Genetics, Children Hospital Giovanni XXIII, Azienda Ospedaliero-Universitaria Consorziale, 70126 Bari, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundApulia and neighbouring Southern Italian regions present a complex genetic stratification shaped by historical migrations. Phenylketonuria (PKU), caused by

methodsA retrospective cohort study was conducted on 344 patients followed for at least 10 years. Genetic characterization evolved from Sanger to Next-Generation Sequencing, and patients were stratified into micro-geographic clusters.

resultsThe genetic landscape was dominated by three ancestral variants (c.1208C>T, c.1066-11G>A, c.898G>T), accounting for 58% of the allelic pool. Significant micro-geographic polarization was observed: c.1222C>T clustered in Central-Northern Apulia, mirroring historical Norman-Swabian migration, whereas c.441+5G>T enriched in Southern Apulia. At final follow-up, classic PKU adult patients exhibited a four-fold increased risk of obesity (

conclusions

Indexed as

ObesityPhenylalanine HydroxylasePhenylketonuriasAdultBody Mass IndexFemaleHumansItalyMaleMutationPhenotypeRetrospective StudiesPhenylalanine HydroxylaseBH4 responsivenessBody Mass Index (BMI)genotype-phenotype correlationgeographical clusteringhistorical migrationshyperphenylalaninemia (HPA)Mediterranean geneticsmetabolic riskPAH genePegvaliasephenylketonuria (PKU)population geneticsprecision medicineSouthern Italy

Identifiers

PMID42650054
PMCPMC13512199

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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.