Evidence map›Paper›PMID 39038845›Full record

ArticleJournal of inherited metabolic disease2025

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Youssef Khalil, Emma Footitt, Reddy Vootukuri, Michael F Wempe, Curtis R Coughlin, Spyros Batzios, Matthew P Wilson, Viktor Kožich, Peter T Clayton, Philippa B Mills

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. 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.

Youssef KhalilGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0001-9025-3017
Emma FootittDepartment of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK.
Reddy VootukuriGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.
Michael F WempeSchool of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Aurora, Colorado, USA.
Curtis R CoughlinDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado, USA.
Spyros BatziosDepartment of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK.
Matthew P WilsonGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.
Viktor KožichDepartment of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
Peter T ClaytonGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.
Philippa B MillsGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.ORCID 0000-0002-9704-1268

Funding

Newborn screening and treatment monitoring for patients with pyridoxine-dependent epilepsyR21HD104952 · NICHD · UNIVERSITY OF COLORADO DENVER · PI COUGHLIN, CURTIS R · 2022 to 2023
$428k
Charles UniversityEunice Kennedy Shriver National Institute of Child Health & Human Development R21HD104952Ministry of Health of the Czech Republic AZV NU23-07-00383Ministry of Health of the Czech Republic RVO-VFN64165NICHD NIH HHS R21 HD104952
6 · The paper itself

Abstract

ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α-Aminoadipic semialdehyde (α-AASA) and Δ

Indexed as

BiomarkersPipecolic Acids2-Aminoadipic AcidAldehyde DehydrogenaseAldehyde Dehydrogenase, MitochondrialChildChild, PreschoolEpilepsyFemaleHumansInfantInfant, NewbornLysineMalePyridoxine2-Aminoadipic AcidAldehyde DehydrogenaseAldehyde Dehydrogenase, MitochondrialALDH7A1 protein, humanBiomarkersLysinepipecolic acidPipecolic AcidsPyridoxine6‐oxo‐pipecolic acidALDH7A1 deficiencyaminoadipic semialdehydepiperideine‐6‐carboxylatepyridoxine‐dependent epilepsy

Identifiers

PMID39038845
PMCPMC11670438

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.