ArticleJIMD reports2017
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 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
- Lethal Transaldolase Deficiency Mimicking Gestational Alloimmune Liver Disease: Prenatal Sonography and Identification of a NovelAJP reports · 2026Article
- Molecular network of metabolic reprogramming and precision diagnosis and treatment of hepatocellular carcinoma.Biomarker research · 2025Review
- Transaldolase Deficiency in a Saudi Girl: Identification of a Novel Homozygous TALDO1 Variant.Cureus · 2025Article
- Review
- Elevated Erythritol: A Marker of Metabolic Dysregulation or Contributor to the Pathogenesis of Cardiometabolic Disease?Nutrients · 2023Review
- Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.Cancers · 2023Review
- Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?Journal of clinical medicine · 2023Review
- Cytosolic aldose metabolism contributes to progression from cirrhosis to hepatocarcinogenesis.Nature metabolism · 2023Article
- 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
- Hepatocellular Carcinoma of Fibrolamellar Type in an Adolescent: Case Report and Literature Review.Gastrointestinal tumors · 2019Article
- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.JIMD reports · 2019Article
- Article
- Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.Molecular genetics and metabolismArticle
- [Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].Developmental period medicineReview
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transaldolase deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway that presents clinically with infantile-onset hepatopathy progressing to cirrhosis, nephropathy, connective tissue abnormalities resembling cutis laxa, coagulopathy, cytopenias, and increased risk of hepatocellular carcinoma. In many cases, death occurs in infancy or early childhood. There is no established treatment for transaldolase deficiency in humans. Recent work in a knockout mouse model of transaldolase deficiency has demonstrated a benefit to supplementation with the glutathione precursor N-acetylcysteine (NAC). We describe an infant with genetically confirmed transaldolase deficiency with multisystem involvement, including liver enlargement and markedly elevated alpha fetoprotein. Acetaminophen was strictly avoided. Treatment with oral NAC over a 6-month period was well tolerated and was associated with a sustained normalization of alpha fetoprotein levels and stable clinical course. The clinical significance of normalized serum alpha fetoprotein in this patient is not certain, although it may reflect decreased hepatocyte injury and reduced hepatocarcinogenesis as has been suggested in the mouse disease model. NAC supplementation may provide benefit in humans with transaldolase deficiency. Longer follow-up and data on the response of additional patients with transaldolase deficiency to NAC supplementation will be required to further evaluate efficacy and optimize dosing.
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Registered trials
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.