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- Title
Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.
- Authors
Dirim, Ahmet Burak; Kalayci, Tugba; Safak, Seda; Garayeva Guller, Nurane; Oto, Ozgur Akin; Artan, Ayse Serra; Ozturk, Sukru; Yazici, Halil
- Abstract
This article discusses the case of a 42-year-old Caucasian woman who was diagnosed with a rare genetic disorder called transaldolase deficiency (TALDO-D). The patient presented with glycosuria, hypouricemia, mild kidney dysfunction, and a history of liver cirrhosis and atrial septal defect. The diagnosis was confirmed through genetic testing, which revealed a homozygous likely pathogenic variant in the TALDO1 gene. The patient was treated with N-acetylcysteine and sodium bicarbonate, and her liver and kidney function remained stable during the two-year follow-up. The article highlights the importance of considering TALDO-D in cases of multisystemic disorders with renal involvement.
- Subjects
DELAYED diagnosis; ATRIAL septal defects; GENETIC disorders; CIRRHOSIS of the liver; GENETIC testing; SODIUM bicarbonate; RENOVASCULAR hypertension
- Publication
Nephrology, 2024, Vol 29, Issue 1, p55
- ISSN
1320-5358
- Publication type
Article
- DOI
10.1111/nep.14243