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01-11-2013 | Original Article

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

Published in: Journal of Inherited Metabolic Disease | Issue 6/2013

Abstract

Purpose

Transaldolase deficiency is a recently described inborn error of pentose phosphate pathway. We conducted this study to further delineate the associated phenotype.

Methods and results

We report on 12 new cases representing six families with this metabolic defect that were observed over an 8 year span. None of these cases received the correct diagnosis initially because of significant overlap in the presenting symptoms (growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, pancytopenia, and bleeding tendency) with a wide range of genetic disorders. However, the consanguineous nature of these families allowed us to pursue autozygome analysis, which highlighted TALDO as the likely candidate gene and sequencing confirmed segregation of a novel homozygous mutation with the disease in all the studied families. Biochemical analysis was also consistent with transaldolase deficiency.

Conclusion

This study expands the clinical definition of transaldolase deficiency, and adds to its allelic heterogeneity. In addition, we emphasize the diagnostic challenge posed by this rare and pleiotropic metabolic disorder.

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Title: 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
Publication date: 01-11-2013
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 6/2013
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9577-8

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Abstract

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Methods and results

Conclusion

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