ArticleEuropean journal of pediatrics2015
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 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
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Long-Term Follow-Up of Patients With Transaldolase Deficiency.Journal of inherited metabolic disease · 2026Article
- Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.JCEM case reports · 2024Article
- Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.Cureus · 2023Article
- Article
- Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.Children (Basel, Switzerland) · 2021Article
- Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.Frontiers in genetics · 2021Article
- Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.Journal of inherited metabolic disease · 2020Article
- Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.Frontiers in pharmacology · 2020Review
- Article
- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.JIMD reports · 2017Article
- Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.JIMD reports · 2016Article
- [Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].Developmental period medicineReview
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledTransaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati patients with transaldolase deficiency caused by the homozygous p.R192C missense mutation in TALDO1 displaying wide phenotypic variability. The patients had variable clinical presentations including hepatosplenomegaly, pancytopenia, liver failure, proteinuria, hydrops fetalis, cardiomyopathy, and skin manifestations (e.g., dryness, cutis laxa, ichthyosis, telangiectasias, and hemangiomas). Biochemical analyses including urinary concentration of polyols were consistent with transaldolase deficiency. The mutation p.R192C was previously identified in an Arab patient, suggesting a founder effect in Arab populations.
conclusionThe above findings support the premise that biallelic mutations in TALDO1 are responsible for transaldolase deficiency and confirm the broad phenotypic variability of this condition, even with the same genotype.
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