Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development.

Muna Abedrabbo, Safiya Al Yazeedi, Blair R Leavitt, Hilal Al-Shekaili

Abstract readReview

In one paragraph

Review in Biomolecules, 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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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

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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

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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.

Muna AbedrabboCentre for Molecular Medicine and Therapeutics, BC Children's Hospital and the Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.ORCID 0009-0008-9336-8862

Safiya Al YazeediCollege of Medicine and Health Sciences, Sultan Qaboos University, P.O. Box 36, Muscat 123, Oman.

Blair R LeavittCentre for Molecular Medicine and Therapeutics, BC Children's Hospital and the Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.

Hilal Al-ShekailiDepartment of Biology, College of Science, Sultan Qaboos University, P.O. Box 36, Muscat 123, Oman.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyridoxine-dependent epilepsy due to ALDH7A1 deficiency (PDE-ALDH7A1) is a rare but treatable epileptic encephalopathy caused by disruption of lysine catabolism and secondary depletion of pyridoxal-5'-phosphate (PLP). Although seizures are often controlled with pyridoxine supplementation, many patients continue to experience neurodevelopmental impairment, underscoring the importance of early diagnosis and improved therapeutic strategies. Central to both diagnosis and pathophysiology is the accumulation of lysine-derived metabolites, most notably α-aminoadipate semialdehyde (α-AASA), its cyclic Schiff base Δ

Indexed as

EpilepsyL-Aminoadipate-Semialdehyde Dehydrogenase2-Aminoadipic AcidAldehyde DehydrogenaseAnimalsBiomarkersEarly DiagnosisHumansLysinePicolinic AcidsPipecolic AcidsPyridoxal PhosphatePyridoxine2-Aminoadipic AcidAldehyde DehydrogenaseALDH7A1 protein, humanBiomarkersdelta-1-piperidine-6-carboxylic acidL-Aminoadipate-Semialdehyde DehydrogenaseLysinePicolinic Acidspipecolic acidPipecolic AcidsPyridoxal PhosphatePyridoxine2-oxopropylpiperidine-2-carboxylic acid (2-OPP)6-hydroxy-2-aminocaproic acid (HACA)6-oxopiperidine-2-carboxylic acid (6-oxo-PIP)pyridoxine-dependent epilepsy-ALDH7A1α-aminoadipate semialdehyde (α-AASA)Δ1-piperideine-6-carboxylate (P6C)

Identifiers

PMID42072608

DOI10.3390/biom16040486

PMCPMC13113814

What Socratic 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 Socratic graph.