Transaldolase deficiency – Clinical outcome, pathogenesis, diagnostic process

1Perl A, Qian Y, Chohan KR, Shirley CR, Amidon W, Banerjee S, Middleton FA, Conkrite KL, Barcza M, Gonchoroff N, Suarez SS, Banki K. Transaldolase is essential for maintenance the mitochondrial transmembrane potential and fertility of spermatozoa. Proc Natl Acad Sci USA 2006;103:1481314818.Perl A Qian Y Chohan KR Shirley CR Amidon W Banerjee S Middleton FA Conkrite KL Barcza M Gonchoroff N Suarez SS Banki K Transaldolase is essential for maintenance the mitochondrial transmembrane potential and fertility of spermatozoa Proc Natl Acad Sci USA 2006103148131481810.1073/pnas.0602678103Search in Google Scholar

2Perl A. The pathogenesis of transaldolase deficiency. IUBMB Life 2007;59:365-373.Perl A The pathogenesis of transaldolase deficiency IUBMB Life 200759365 37310.1080/15216540701387188Search in Google Scholar

3Stincone A, Prigione A, Cramer T, Wamelink MM, Campbell K, Cheung E, Olin-Sandoval V, Grüning NM, Krüger A, Tauqeer Alam M, Keller M, Breitenbach M, Brindle KM, Rabinowitz Jd, Ralser M. The return of metabolism: biochemistry and physiology of the pentose phosphate pathway. Biol Rev Camb Philos Soc. 2015;90: 927-963.Stincone A Prigione A Cramer T Wamelink MM Campbell K Cheung E Olin-Sandoval V Grüning NM Krüger A Tauqeer Alam M Keller M Breitenbach M Brindle KM Rabinowitz Jd Ralser M The return of metabolism: biochemistry and physiology of the pentose phosphate pathway Biol Rev Camb Philos Soc 201590 927 96310.1111/brv.12140Search in Google Scholar

4Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, Jakobs C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet. 2001;68:1086-1092.Verhoeven NM Huck JH Roos B Struys EA Salomons GS Douwes AC Jakobs C Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway Am J Hum Genet 2001681086 109210.1086/320108Search in Google Scholar

5Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Bökenkamp A. Nephrological abnormalities in patients with transaldolase deficiency. Nephrol Dial Transplant. 2012;27:3224-3227.Loeffen YG Biebuyck N Wamelink MM Jakobs C Mulder MF Tylki-Szymańska A Bökenkamp A Nephrological abnormalities in patients with transaldolase deficiency Nephrol Dial Transplant 2012273224 322710.1093/ndt/gfs061Search in Google Scholar

6Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Jakobs C. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis. 2005;28:169-179.Verhoeven NM Wallot M Huck JH Dirsch O Ballauf A Neudorf U Jakobs C A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency J Inherit Metab Dis 200528169 17910.1007/s10545-005-5261-6Search in Google Scholar

7Valayonnopoulos V, Verhoeven NM, Mention K, Salomons GA, Sommelet D, Gonzales M, Touati G, de Lyonalay P, Jakobs C, Saudubray JM. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. Pediatrics 2006;149:713-717.Valayonnopoulos V Verhoeven NM Mention K Salomons GA Sommelet D Gonzales M Touati G de Lyonalay P Jakobs C Saudubray JM Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease Pediatrics 2006149713 71710.1016/j.jpeds.2006.08.016Search in Google Scholar

8Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT. Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. J Pediatr Gastroenterol Nutr. 2011;52:113-116.Balasubramaniam S Wamelink MM Ngu LH Talib A Salomons GS Jakobs C Keng WT Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure J Pediatr Gastroenterol Nutr 201152113 11610.1097/MPG.0b013e3181f50388Search in Google Scholar

9Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. Transaldolase deficiency in a two-year-old boy with cirrhosis. Mol Genet Metab. 2008;94:255-258.Wamelink MM Struys EA Salomons GS Fowler D Jakobs C Clayton PT Transaldolase deficiency in a two-year-old boy with cirrhosis Mol Genet Metab 200894255 25810.1016/j.ymgme.2008.01.011Search in Google Scholar

10Tylki-Szymanska A, Stradomska TJ, Wamelink MM, Salomons GS, Taybert J, Pawłowska J, Jakobs C. Transaldolase deficiency in two new patients with a relative mild phenotype. Mol Genet Metab. 2009;97:15-17.Tylki-Szymanska A Stradomska TJ Wamelink MM Salomons GS Taybert J Pawłowska J Jakobs C Transaldolase deficiency in two new patients with a relative mild phenotype Mol Genet Metab 20099715 1710.1016/j.ymgme.2009.01.016Search in Google Scholar

11Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Alkuraya FS. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013;36:997-1004.Eyaid W Al Harbi T Anazi S Wamelink MM Jakobs C Al Salammah M Alkuraya FS Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype J Inherit Metab Dis 201336997 100410.1007/s10545-012-9577-8Search in Google Scholar

12LeDuc CA, Crouch EE, Wilson A, Lefkowitch J, Wamelink MMC, Jakobs C, Salomons GS, Sun X, Shen Y, Chung WK.Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep. 2014;12:121-127.LeDuc CA Crouch EE Wilson A Lefkowitch J Wamelink MMC Jakobs C Salomons GS Sun X Shen Y Chung WK Novel association of early onset hepatocellular carcinoma with transaldolase deficiency JIMD Rep 201412121 12710.1007/8904_2013_254Search in Google Scholar

13Tylki-Szymanska A,Wamelink MM, Stradomska TJ, Salomons GS, Taybert J, Dąbrowska-Leonik N, Rurarz M. Clinical and molecular characteristics of two transaldolase-deficient patients. Eur J Pediatr. 2014;173:1679-1682.Tylki-Szymanska A Wamelink MM Stradomska TJ Salomons GS Taybert J Dąbrowska-Leonik N Rurarz M Clinical and molecular characteristics of two transaldolase-deficient patients Eur J Pediatr 20141731679 168210.1007/s00431-014-2261-2Search in Google Scholar

14Jassim N, Alghaihab M, Saleh SA, Alfadhel M, Wamelink MM, Eyaid W. Pulmonary manifestations in a patient with transaldolase deficiency. JIMD Rep. 2014;12:47-50.Jassim N Alghaihab M Saleh SA Alfadhel M Wamelink MM Eyaid W Pulmonary manifestations in a patient with transaldolase deficiency JIMD Rep 20141247 5010.1007/8904_2013_243Search in Google Scholar

15Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. Eur J Pediatr. 2015;174:661-668.Al-Shamsi AM Ben-Salem S Hertecant J Al-Jasmi F Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability Eur J Pediatr 2015174661 66810.1007/s00431-014-2449-5Search in Google Scholar

16Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Cederboim SH, Duvdevani MP, Frumkin A, Zilkha A, Kapuller V, Arbell D, Cohen E, Eventov-Friedman S. Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. JIMD Rep. 2016;26:31-36.Banne E Meiner V Shaag A Katz-Brull R Gamliel A Korman S Cederboim SH Duvdevani MP Frumkin A Zilkha A Kapuller V Arbell D Cohen E Eventov-Friedman S Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum JIMD Rep 20162631 3610.1007/8904_2015_474Search in Google Scholar

17Rodan LH, Berry GT. N-Acetylcysteine therapy in an infant with transaldolase deficiency is well tolerated and associated with normalization of alpha fetoprotein levels. JIMD Rep. 2017;31:73-77.Rodan LH Berry GT N-Acetylcysteine therapy in an infant with transaldolase deficiency is well tolerated and associated with normalization of alpha fetoprotein levels JIMD Rep 20173173 7710.1007/8904_2016_555Search in Google Scholar

18Lipiński P, Pawłowska P, Stradomska TJ, Ciara E, Jankowska I, Socha P, Tylki-Szymańska A Long-term systematic monitoring of four Polish transaldolase deficient patients. JIMD Rep 2018 (in press). doi:10.1007/8904_2017_83Lipiński P Pawłowska P Stradomska TJ Ciara E Jankowska I Socha P Tylki-Szymańska A Long-term systematic monitoring of four Polish transaldolase deficient patients JIMD Rep 2018 (in press). doi10.1007/8904_2017_83Open DOISearch in Google Scholar

19Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C. Detection of transaldolase deficiency by quantification of novel seven carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis. 2007;30:735-742.Wamelink MM Smith DE Jansen EE Verhoeven NM Struys EA Jakobs C Detection of transaldolase deficiency by quantification of novel seven carbon chain carbohydrate biomarkers in urine J Inherit Metab Dis 200730735 74210.1007/s10545-007-0590-2Search in Google Scholar

20Wamelink MM, Smith DE, Jakobs C, Verhoeven NM. Analysis of polyols in urine by liquid chromatographytandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. J Inherit Metab Dis. 2005;28:951-963.Wamelink MM Smith DE Jakobs C Verhoeven NM Analysis of polyols in urine by liquid chromatographytandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism J Inherit Metab Dis 200528951 96310.1007/s10545-005-0233-4Search in Google Scholar

21Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Anal Technol Biomed Life Sci. 2005;823:18-25.Wamelink MM Struys EA Huck JH Roos B van der Knaap MS Jakobs C Verhoeven NM Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism J Chromatogr B Anal Technol Biomed Life Sci 200582318 2510.1016/j.jchromb.2005.01.001Search in Google Scholar

22Stradomska TJ, Mileniczuk Z. Gas chromatographic determination of D-/L-arabinitol ratio in healthy Polish children. J Chromatogr B Nal Technol Biomed Life Sci. 2002;773:175-181.Stradomska TJ Mileniczuk Z Gas chromatographic determination of D-/L-arabinitol ratio in healthy Polish children J Chromatogr B Nal Technol Biomed Life Sci 2002773175 18110.1016/S1570-0232(02)00180-0Search in Google Scholar