Literature DB >> 18331807

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Mirjam M Wamelink1, Eduard A Struys, Gajja S Salomons, Darren Fowler, Cornelis Jakobs, Peter T Clayton.   

Abstract

Transaldolase (TALDO) deficiency is a rare inborn error of the pentose phosphate pathway. We report the clinical presentation and laboratory findings of a new patient with TALDO deficiency. The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given.

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Year:  2008        PMID： 18331807     DOI： 10.1016/j.ymgme.2008.01.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  12 in total

Review 1.  The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

Authors:  M M C Wamelink; E A Struys; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2008-11-08       Impact factor: 4.982

2.  Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

Authors:  Patryk Lipiński; Joanna Pawłowska; Teresa Stradomska; Elżbieta Ciara; Irena Jankowska; Piotr Socha; Anna Tylki-Szymańska
Journal:  JIMD Rep       Date:  2018-01-03

3.  Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Authors:  Aisha M Al-Shamsi; Salma Ben-Salem; Jozef Hertecant; Fatma Al-Jasmi
Journal:  Eur J Pediatr       Date:  2014-11-12       Impact factor: 3.183

4.  Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

Authors:  Charles A Leduc; Elizabeth E Crouch; Ashley Wilson; Jay Lefkowitch; Mirjam M C Wamelink; Cornelis Jakobs; Gajja S Salomons; Xiaoyun Sun; Yufeng Shen; Wendy K Chung
Journal:  JIMD Rep       Date:  2013-10-06

5.  Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Authors:  Wafaa Eyaid; Talal Al Harbi; Shamsa Anazi; Mirjam M C Wamelink; Cornelis Jakobs; Mohammad Al Salammah; Mohammed Al Balwi; Majid Alfadhel; Fowzan S Alkuraya
Journal:  J Inherit Metab Dis       Date:  2013-01-12       Impact factor: 4.982

6.  Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Authors:  Ehud Banne; Vardiella Meiner; Avraham Shaag; Rachel Katz-Brull; Ayelet Gamliel; Stanley Korman; Smadar Horowitz Cederboim; Morasha Plesser Duvdevani; Ayala Frumkin; Amir Zilkha; Vadim Kapuller; Dan Arbell; Elite Cohen; Smadar Eventov-Friedman
Journal:  JIMD Rep       Date:  2015-08-04

7.  Pulmonary manifestations in a patient with transaldolase deficiency.

Authors:  Nada Jassim; Mohammed Alghaihab; Suhail Al Saleh; Majid Alfadhel; Mirjam M C Wamelink; Wafaa Eyaid
Journal:  JIMD Rep       Date:  2013-07-12

Review 8.  Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Authors:  Swati Chaturvedi; Ashok K Singh; Amit K Keshari; Siddhartha Maity; Srimanta Sarkar; Sudipta Saha
Journal:  Scientifica (Cairo)       Date:  2016-03-09

9.  Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.

Authors:  Zachary Oaks; John Jimah; Craig C Grossman; Miguel Beckford; Ryan Kelly; Sanjay Banerjee; Brian Niland; Gabriella Miklossy; Zarife Kuloglu; Aydan Kansu; William Lee; Laszlo Szonyi; Katalin Banki; Andras Perl
Journal:  J Inherit Metab Dis       Date:  2020-01-01       Impact factor: 4.750

10.  Clinical and molecular characteristics of two transaldolase-deficient patients.

Authors:  Anna Tylki-Szymanska; Mirjam M C Wamelink; Teresa J Stradomska; Gajja S Salomons; Joanna Taybert; Nel Dąbrowska-Leonik; Małgorzata Rurarz
Journal:  Eur J Pediatr       Date:  2014-02-05       Impact factor: 3.183
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