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JIMD Reports, Volume 42 pp 79–87Cite as

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

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Part of the book series: JIMD Reports ((JIMD,volume 42))

Abstract

Introduction: Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients. Tżhere are few reports regarding the long-term follow-up of these patients.

The aim of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO.

Methods and Results: We report four patients who manifested early onset TALDO. They were monitored with systematic clinical and laboratory examinations for 4–13 years. The dominant feature was an early liver injury, with subsequent renal tubulopathy. All patients presented with osteopenia and poor physical development. Our data shows that polyol concentrations seem to decrease with age.

Conclusions: In our patients, a progressive coagulopathy was the most sensitive parameter of liver dysfunction. Nodular fibrosis of the liver developed over the natural course of TALDO. This is the first report of long-term systematic clinical and biochemical monitoring of the disease progress in patients with TALDO.

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Notes

  1. 1.

    In silico prediction of the potential protein functionality of identified molecular variants was performed with: PolyPhen-2 – Polymorphism Phenotyping v2 (http://genetics.bwh.harvard.edu/pph2/index.shtml); MutationAssessor (http://mutationassessor.org); LRT – Likelihood Ratio Test (http://www.genetics.wustl.edu/jflab/lrt_query.html); SIFT – Sorting Intolerant From Tolerant (http://sift.jcvi.org/www/SIFT_BLink_submit.html); MutationTaster (http://www.mutationtaster.org/); Alamut Visual (http://www.interactive-biosoftware.com/alamut-visual/); FATHMM – Functional Analysis through Hidden Markov Models FATHMM (https://omictools.com/functional-analysis-through-hidden-markov-models-tool); MetaSVM – MetaSVM score for non-synonymous variants; MetaLR – MetaLR score for non-synonymous variants.

Abbreviations

AFP:

Alpha-fetoprotein

ALT:

Alanine transaminase

APTT:

Activated partial thromboplastin time

AST:

Aspartate transaminase

CT:

Computed tomography

GFR:

Glomerular filtration rate

GSH:

Reduced glutathione

HCC:

Hepatocellular carcinoma

INR:

International normalized ratio

IUGR:

Intrauterine growth retardation

LTx:

Liver transplantation

NAC:

N-acetylcysteine

NADPH:

Nicotinamide adenine dinucleotide phosphate

PELD:

Pediatric end-stage liver disease

PLT:

Platelet count

PPP:

Pentose phosphate pathway

PT:

Prothrombin time

TALDO:

Transaldolase deficiency

TALDO1 :

Transaldolase gene name

US:

Ultrasound

References

  • Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F (2015) Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability. Eur J Pediatr 174:661–668

    Article  CAS  Google Scholar 

  • Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S et al (2016) Transaldolase deficiency: a new case expands the phenotypic spectrum. JIMD Rep 26:31–36

    Article  Google Scholar 

  • Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Alkuraya FS (2013) Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis 36:997–1004

    Article  CAS  Google Scholar 

  • Jassim N, Alghaihab M, Saleh SA, Alfadhel M, Wamelink MM, Eyaid W (2014) Pulmonary manifestations in a patient with transaldolase deficiency. JIMD Rep 12:47–50

    Article  Google Scholar 

  • LeDuc CA, Crouch EE, Wilson A, Lefkowitch J, Wamelink MMC, Jakobs C, Salomons GS, Sun X, Shen Y, Chung WK (2013) Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep. https://doi.org/10.1007/8904_2013_254

    Google Scholar 

  • Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Bökenkamp A (2012) Nephrological abnormalities in patients with transaldolase deficiency. Nephrol Dial Transplant 27:3224–3227

    Article  CAS  Google Scholar 

  • Perl A (2007) The pathogenesis of transaldolase deficiency. IUBMB Life 59:365–373

    Article  CAS  Google Scholar 

  • Perl A, Qian Y, Chohan KR, Shirley CR, Amidon W, Banerjee S et al (2006) Transaldolase is essential for maintenance the mitochondrial transmembrane potential and fertility of spermatozoa. Proc Natl Acad Sci U S A 103:14813–14818

    Article  Google Scholar 

  • Rodan LH, Berry GT (2017) N-Acetylcysteine therapy in an infant with transaldolase deficiency is well tolerated and associated with normalization of alpha fetoprotein levels. JIMD Rep 31:73–77

    Article  Google Scholar 

  • Stradomska TJ, Mileniczuk Z (2002) Gas chromatographic determination of D-/L-arabinitol ratio in healthy Polish children. J Chromatogr B Analyt Technol Biomed Life Sci 773:175–181

    Article  CAS  Google Scholar 

  • Tylki-Szymanska A, Stradomska TJ, Wamelink MM, Salomons GS, Taybert J, Pawłowska J, Jakobs C (2009) Transaldolase deficiency in two new patients with a relative mild phenotype. Mol Genet Metab 97:15–17

    Article  CAS  Google Scholar 

  • Tylki-Szymanska A, Wamelink MM, Stradomska TJ, Salomons GS, Taybert J, Dąbrowska-Leonik N, Rurarz M (2014) Clinical and molecular characteristics of two transaldolase-deficient patients. Eur J Pediatr. https://doi.org/10.1007/s00431-014-2261-2

    Article  CAS  Google Scholar 

  • Valayonnopoulos V, Verhoeven NM, Mention K, Salomons GA, Sommelet D, Gonzales M, Touati G, de Lyonalay P, Jakobs C, Saudubray JM (2006) Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. Pediatrics 149:713–717

    Article  Google Scholar 

  • Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, Jakobs C (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68:1086–1092

    Article  CAS  Google Scholar 

  • Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Jakobs C (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 28:169–179

    Article  CAS  Google Scholar 

  • Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C (2007) Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis 30:735–742

    Article  CAS  Google Scholar 

  • Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT (2008) Transaldolase deficiency in a two-year-old boy with cirrhosis. Mol Genet Metab 94:255–258

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank Colleen Elso, PhD, from Edanz Group (www.edanzediting.com/ac) for editing a draft of this manuscript.

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Authors and Affiliations

  1. Department of Gastroenterology, Hepatology, Feeding Disorders and Paediatrics, The Children’s Memorial Health Institute, Warsaw, Poland

    Patryk Lipiński, Joanna Pawłowska, Irena Jankowska & Piotr Socha

  2. Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland

    Teresa Stradomska

  3. Department of Molecular Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

    Elżbieta Ciara

  4. Department of Paediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

    Anna Tylki-Szymańska

Authors
  1. Patryk Lipiński
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  2. Joanna Pawłowska
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  3. Teresa Stradomska
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  4. Elżbieta Ciara
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  5. Irena Jankowska
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  6. Piotr Socha
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  7. Anna Tylki-Szymańska
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Corresponding author

Correspondence to Anna Tylki-Szymańska .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Bridget Wilcken

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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)

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Lipiński, P. et al. (2018). Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 42. JIMD Reports, vol 42. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_83

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  • DOI: https://doi.org/10.1007/8904_2017_83

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58364-7

  • Online ISBN: 978-3-662-58365-4

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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