Successful Liver Transplantation in a Pediatric Patient With Transaldolase Deficiency

Abstract

Background Transaldolase deficiency (TALDO) is a rare autosomal recessive disorder of the pentose phosphate pathway, presenting with end-stage liver disease, renal tubular dysfunction, and coagulopathies. Liver transplantation has emerged as a potential treatment for end-stage liver disease in TALDO patients, though clinical evidence is limited to seven reported cases. Methods We describe the case of a pediatric patient with TALDO who successfully underwent living donor liver transplantation. Clinical, preoperative, surgical, and postoperative data were reviewed and compared with previously reported cases. Results A 3-year 4-month-old girl with TALDO presented with end-stage liver disease, recurrent bleeding, and suspected hepatocellular carcinoma (HCC). She received a left lateral segment graft from her father. Postoperatively, coagulopathy and bleeding episodes resolved, with stable liver function at 1 year. Histopathology revealed cirrhosis without HCC. Complications included bile duct stenosis, successfully managed. Conclusions This case emphasizes liver transplantation as a lifesaving option for TALDO patients with end-stage liver disease. While short-term outcomes are promising, further studies are needed to evaluate long-term prognosis and growth outcomes. Reporting additional cases is vital to refine management strategies.