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Article

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

Journal of inherited metabolic disease - 1 Nov 2013

Eyaid Wafaa, Al Harbi Talal, Anazi Shamsa, Wamelink Mirjam M C, Jakobs Cornelis, Al Salammah Mohammad, Al Balwi Mohammed, Alfadhel Majid, Alkuraya Fowzan S

Abstract excerpt

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...

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PMID: 23315216
DOI: 10.1007/s10545-012-9577-8

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