Transaldolase Deficiency in a Saudi Girl: Identification of a Novel Homozygous TALDO1 Variant
Year: 2025
Type: article
Study design: Case Report
Abstract: Transaldolase deficiency (TALDOD) is a rare autosomal recessive disorder that affects the pentose phosphate pathway, resulting from pathogenic variants in the TALDO1 gene. The condition leads to varied multisystem involvement, including hepatosplenomegaly, liver dysfunction, coagulopathy, cardiac anomalies, facial dysmorphic traits, and renal anomalies, often presenting in infancy or early childhood. We present a case of a nine-month-old Saudi girl with clinical features consistent with TALDOD. Whole exome sequencing confirmed the presence of a homozygous novel variant c.871_873delGAG p.(Glu291del) in exon 7 of the TALDO1 gene with isoform NM_006755.1. To our knowledge, this variant has not been reported in the literature to date. The objective of this case report is to raise awareness about this very rare disease and to add it to the database of TALDOD.
Source: Cureus
DOI: 10.7759/cureus.93294
Authors: Khalid Asiri, Syed Rayees, Badriah G Alasmari
Institution: Armed Forces Hospital Southern Region
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414561702