Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant

NephrologyEarly View CORRESPONDENCE Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant Ahmet Burak Dirim, Corresponding Author Ahmet Burak Dirim [email protected] orcid.org/0000-0003-2262-8627 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Correspondence Ahmet Burak Dirim, Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34134, Turkey. Email: [email protected]Search for more papers by this authorTugba Kalayci, Tugba Kalayci Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorSeda Safak, Seda Safak Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorNurane Garayeva Guller, Nurane Garayeva Guller orcid.org/0000-0002-3170-7346 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorOzgur Akin Oto, Ozgur Akin Oto orcid.org/0000-0003-0928-8103 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorAyse Serra Artan, Ayse Serra Artan Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorSukru Ozturk, Sukru Ozturk Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorHalil Yazici, Halil Yazici Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this author Ahmet Burak Dirim, Corresponding Author Ahmet Burak Dirim [email protected] orcid.org/0000-0003-2262-8627 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Correspondence Ahmet Burak Dirim, Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34134, Turkey. Email: [email protected]Search for more papers by this authorTugba Kalayci, Tugba Kalayci Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorSeda Safak, Seda Safak Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorNurane Garayeva Guller, Nurane Garayeva Guller orcid.org/0000-0002-3170-7346 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorOzgur Akin Oto, Ozgur Akin Oto orcid.org/0000-0003-0928-8103 Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorAyse Serra Artan, Ayse Serra Artan Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorSukru Ozturk, Sukru Ozturk Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Graduate School of Health Sciences, Istanbul, Turkey Department of Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this authorHalil Yazici, Halil Yazici Department of Internal Medicine, Division of Nephrology, Istanbul University, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TurkeySearch for more papers by this author First published: 22 September 2023 https://doi.org/10.1111/nep.14243Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Luo F, Tao YH. Nephronophthisis: a review of genotype-phenotype correlation. Nephrology (Carlton). 2018; 23(10): 904-911. doi:10.1111/nep.13393 2Noguchi A, Takahashi T. Overview of symptoms and treatment for lysinuric protein intolerance. J Hum Genet. 2019; 64(9): 849-858. doi:10.1038/s10038-019-0620-6 3Williams M, Valayannopoulos V, Altassan R, et al. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients. J Inherit Metab Dis. 2019; 42(1): 147-158. doi:10.1002/jimd.12036 Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation