Transaldolase Deficiency in a Saudi Girl: Identification of a Novel Homozygous TALDO1 Variant.

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.