Evidence map›Paper›PMID 40078824›Full record

ArticleJIMD reports2025

An atypical presentation in a child with propionic acidemia? Better think twice!

Tim Burkhardt, Katharine L Kastor, Stine Christ, Thomas Opladen, Christian Staufner, Stefanie Beck-Wödl, Tobias Haack, Maja Hempel, Angelika Seitz, Stefan Kölker

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2025. 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

10 authors.

Tim BurkhardtMedical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.ORCID https://orcid.org/0009-0004-3720-1196
Katharine L KastorDepartment of Pediatrics and Adolescent Medicine Marienhaus Klinikum St. Elisabeth Neuwied Neuwied Germany.
Stine ChristMedical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.
Thomas OpladenMedical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.
Christian StaufnerMedical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.
Stefanie Beck-WödlInstitute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.
Maja HempelMedical Faculty, Institute of Human Genetics Heidelberg University Heidelberg Germany.
Angelika SeitzMedical Faculty, Department of Neuroradiology Heidelberg University Heidelberg Germany.
Stefan KölkerMedical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonemia. The child's clinical course and neuroradiological findings increasingly deviated from the known clinical and neuroradiological spectrum of propionic acidemia. A rapid trio exome sequencing identified

Indexed as

biotin‐thiamine‐responsive basal ganglia diseasehyperammonemialactate acidosisneurological deteriorationpropionic acidemiapropionic aciduriaSLC19A3thiamine metabolism dysfunction syndrome 2

Identifiers

PMID40078824
PMCPMC11897901

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.