Evidence map›Paper›PMID 42722418›Full record

ArticleJournal of inherited metabolic disease2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Barbara Siri, Diego Martinelli, Rosalba Carrozzo, Sara Boenzi, Sara Cairoli, Cristiano Rizzo, Teresa Giovanniello, Johannes Häberle, Carlo Dionisi-Vici

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Barbara SiriDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-2876-4745
Diego MartinelliDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-9324-2871
Rosalba CarrozzoTranslational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-3327-4054
Sara BoenziDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-9153-4950
Sara CairoliDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-5925-0974
Cristiano RizzoDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-5954-9749
Teresa GiovannielloClinical Pathology Unit, AOU Policlinico Umberto I, Rome, Italy.
Johannes HäberleUniversity Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.ORCID https://orcid.org/0000-0003-0635-091X
Carlo Dionisi-ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-0007-3379

Funding

Citrin Foundation RG24003Italian Ministry of HealthSwiss National Science Foundation 320030_207965Swiss National Science Foundation CRSII-222794University Research Priority Program ITINERARE (University of Zurich, Switzerland)
6 · The paper itself

Abstract

ATP synthase defects, including TMEM70 and MT-ATP6 deficiencies, cause severe mitochondrial encephalo-(cardio)-myopathies complicated by acute metabolic decompensations (AMDs) often associated with hyperammonaemia. However, detailed biochemical characterisation of these events remains limited. The aim of the study was to evaluate the metabolic profiles associated with TMEM70 and MT-ATP6 deficiencies during AMDs in comparison to stable metabolic conditions, assessing frequency and severity of hyperammonaemia, and exploring the mechanisms linking impaired mitochondrial ATP production to the urea cycle by in vivo ureagenesis studies, using [

Indexed as

Membrane ProteinsMitochondrial ProteinsMitochondrial Proton-Translocating ATPasesUreaAdolescentAdultChildChild, PreschoolFemaleHumansHyperammonemiaMaleMitochondriaRetrospective StudiesMembrane ProteinsMitochondrial ProteinsMitochondrial Proton-Translocating ATPasesMT-ATP6 protein, humanTMEM70 protein, humanUreaacute metabolic decompensationATP synthase defectsMT‐ATP6TMEM70‐related encephalo‐(cardio)‐myopathyurea cycle

Identifiers

PMID42722418
PMCPMC13561688

What OpenQuestion holds

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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.