ArticleCureus2025
Transaldolase Deficiency in a Saudi Girl: Identification of a Novel Homozygous TALDO1 Variant.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype-Phenotype Relationships, and Transplantation Outcomes-A Systematic Review.International journal of molecular sciences · 2026Pooled it
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transaldolase deficiency (TALDOD) is a rare autosomal recessive disorder that affects the pentose phosphate pathway, resulting from pathogenic variants in the TALDO1 gene. The condition leads to varied multisystem involvement, including hepatosplenomegaly, liver dysfunction, coagulopathy, cardiac anomalies, facial dysmorphic traits, and renal anomalies, often presenting in infancy or early childhood. We present a case of a nine-month-old Saudi girl with clinical features consistent with TALDOD. Whole exome sequencing confirmed the presence of a homozygous novel variant c.871_873delGAG p.(Glu291del) in exon 7 of the TALDO1 gene with isoform NM_006755.1. To our knowledge, this variant has not been reported in the literature to date. The objective of this case report is to raise awareness about this very rare disease and to add it to the database of TALDOD.
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Registered trials
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