Evidence map›Paper›PMID 41246763›Full record

ArticleCureus2025

Hyperammonemia in Inherited Metabolic Diseases: A Case Report.

Natalia Frankevich, Mzia Makieva, Olga Mikhailova, Vladimir Frankevich

Abstract readCase Reports
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

4 authors.

Natalia FrankevichObstetrics and Gynecology, National Medical Research Center for Obstetrics Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Healthcare of Russian Federation, Moscow, RUS.
Mzia MakievaObstetrics and Gynecology, National Medical Research Center for Obstetrics Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Healthcare of Russian Federation, Moscow, RUS.
Olga MikhailovaObstetrics and Gynecology, National Medical Research Center for Obstetrics Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Healthcare of Russian Federation, Moscow, RUS.
Vladimir FrankevichObstetrics and Gynecology, National Medical Research Center for Obstetrics Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Healthcare of Russian Federation, Moscow, RUS.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal hyperammonemia is a medical emergency where diagnostic delay can lead to catastrophic neurological outcomes. This case report of a full-term male infant with ornithine transcarbamylase (OTC) deficiency highlights the critical challenges in its early recognition and management. The initial presentation of inborn errors of metabolism is often nonspecific in the neonatal period, and while biochemical testing is essential, it is not always rapidly available. Our experience underscores that a high index of clinical suspicion is paramount. Furthermore, this case reinforces the urgent need to expand newborn screening programs to facilitate a prompt diagnosis, allowing for the immediate initiation of treatment. Such measures are vital to prevent the irreversible pathological processes that lead to severe disability or increased mortality in these patients.

Indexed as

ammoniahyperammonemiaorganic acidemiasornithine trans-carbamylase deficiencyurea cycle disorders

Identifiers

PMID41246763
PMCPMC12616219

What OpenQuestion holds

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Registered trials

None linked

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.