ArticleEuropean journal of pediatrics2014
Clinical and molecular characteristics of two transaldolase-deficient patients.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype-Phenotype Relationships, and Transplantation Outcomes-A Systematic Review.International journal of molecular sciences · 2026Pooled it
- Transaldolase Deficiency in a Saudi Girl: Identification of a Novel Homozygous TALDO1 Variant.Cureus · 2025Article
- Review
- Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.JCEM case reports · 2024Article
- Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?Nutrients · 2023Review
- Pediatric metabolic liver diseases: Evolving role of liver transplantation.World journal of transplantation · 2021Review
- Unexpected roles for ADH1 and SORD in catalyzing the final step of erythritol biosynthesis.The Journal of biological chemistry · 2019Article
- Article
- Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.JIMD reports · 2016Article
- Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.European journal of pediatrics · 2015Article
- [Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].Developmental period medicineReview
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledTransaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of affected patients contain increased polyol concentrations and seven-carbon chain carbohydrates. We report the molecular and clinical findings in two recently diagnosed transaldolase-deficient children, both presented at birth. During infancy, they presented thin skin with a network of visible vessels, spider telangiectasias and multiple haemangiomas. Such unusual skin changes are characteristic of liver damage. Later, the patients developed rapidly progressive nodular liver fibrosis, tubulopathy and severe clotting disturbances. The clinical features of these patients were in line with previously studied patients with transaldolase deficiency. The diagnosis was established by detecting high concentrations of erythritol, ribitol, arabitol, sedoheptitol, perseitol, sedoheptulose and sedoheptulose-7-phosphate in the urine. Detection was made by gas chromatography and liquid chromatography-tandem mass spectrometry and then confirmed by molecular analysis of the TALDO gene.
conclusionTransaldolase deficiency, a rare early-onset multisystem disease, should be considered by neonatologists, paediatricians, hepatologists and nephrologists in the differential diagnosis of patients presenting hepatosplenomegaly, thrombocytopenia, anaemia, bleeding diathesis, liver failure and tubulopathy.
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