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Pathway Description
Transaldolase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-14
Transaldolase deficiency, also known as Eyaid syndrome or TALDO deficiency, is a desease caused by homozygous or compound heterozygous mutations in the TALDO1 gene that encodes for transaldolase. The mutation found in one study was a base pair deletion leading to a premature truncation of the protein, preventing its activity in the cell. Other mutations reported in other studies include other deletions or homozygous base pair substitutions that cause a misfolded and non-functional protein.
Transaldolase is an enzyme that reversibly converts D-erythrose 4-phosphate and fructose 6-phosphate to D-sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate, as a part of the pentose phosphate pathway.
Almost all affected patients show hepatosplenomegaly, liver dysfunction, low counts for all blood cell types, cardiac defects, and come from consanguinous families. They also show dysmorphic features, including a triangular face, low set ears, and a wide mouth with thin lips. Other signs include abnormal concentrations of polyols in urine and plasma, as well as ribose-, xylulose-, and ribulose-5-phosphate being elevated in urine.
References
Transaldolase Deficiency References
[Metagen: TRANSALDOLASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=477)
[OMIM: 606003](http://omim.org/entry/606003})
Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymanska A, Fung CW, Valayannopoulos V, Bokenkamp A: Nephrological abnormalities in patients with transaldolase deficiency. Nephrol Dial Transplant. 2012 Aug;27(8):3224-7. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.
Pubmed: 22510381
Perl A: The pathogenesis of transaldolase deficiency. IUBMB Life. 2007 Jun;59(6):365-73. doi: 10.1080/15216540701387188.
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Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS: Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013 Nov;36(6):997-1004. doi: 10.1007/s10545-012-9577-8. Epub 2013 Jan 12.
Pubmed: 23315216
Pentose Phosphate Pathway References
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