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Long-Term Follow-Up of Patients With Transaldolase Deficiency.

M Scaglione1,2, A Brassier1, A Wiedemann3

  • 1Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, French G2m Network for Metabolic Diseases, MetabERN, INSERM-1151, INEM, INSERM UMR _S1163, Institut Imagine, Paris, France.

Journal of Inherited Metabolic Disease
|March 13, 2026
PubMed
Summary

Transaldolase (TALDO) deficiency impacts multiple organs, frequently causing liver failure and cirrhosis, necessitating liver transplantation (LTx). Kidney transplantation may also be considered for long-term management in older patients.

Keywords:
kidney transplantationliver failureliver transplantationmultiorgan involvementpentose phosphate pathwaytransaldolase deficiency

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Transaldolase (TALDO) deficiency is a rare genetic disorder with a known phenotype but limited long-term outcome data.
  • Few large cohort studies exist, particularly regarding the long-term management and organ transplantation needs in TALDO deficiency.

Purpose of the Study:

  • To report a long-term, multicenter experience in managing patients with Transaldolase (TALDO) deficiency.
  • To characterize the long-term clinical course, including organ involvement and transplantation outcomes.

Main Methods:

  • Retrospective collection of data from 16 patients with TALDO deficiency followed for up to 20 years.
  • Analysis of clinical outcomes, including liver disease progression, kidney function, cardiac findings, cytopenias, endocrine dysfunction, and neurocognitive development.

Main Results:

  • All patients had liver involvement, with 6 experiencing neonatal liver failure; 10 developed cirrhosis, and 4 underwent liver transplantation (LTx).
  • Five patients developed chronic kidney failure, with transplantation considered in two after age 20. Cardiac findings (PFO, cardiomyopathy) and chronic cytopenias were common.
  • Endocrine issues (hypogonadism, adrenal insufficiency, hypothyroidism) were noted. Neurocognitive delay was mild and infrequent.

Conclusions:

  • Early consideration of liver transplantation is crucial for liver insufficiency in TALDO deficiency, though weight gain can be a challenge in severe neonatal cases.
  • Kidney involvement may necessitate kidney transplantation in older patients, a previously undescribed aspect of TALDO deficiency management.
  • This study highlights the multisystemic nature of TALDO deficiency and the importance of long-term monitoring and multidisciplinary care, including potential for kidney transplantation.