Transaldolase deficiency

Recently, a new diagnostic marker was confirmed for transaldolase deficiency. The seven carbon sugars sedoheptulose and mannoheptulose are highly elevated in urine and are specific biomarkers for transaldolase deficiency [12]. 

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, 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... 

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 2 169-179... 

Wamelink MM, Smith DEC, Jansen EEW, Verhoeven NM, Struys EA, Jakobs C (2007) Detection of Transaldolase Deficiency by Quantitation of Novel Seven-Carbon Chain Carbohydrate Biomarkers in Urine. J Inherit Metab Dis 30 735-742... 

Huck, J. H. Struys, E. A. Verhoeven, N. M. Jakobs, C. van der Knaap, M. S. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry application to transaldolase deficiency. Clin. Chem. 2003, 49, 1375-1380. 

That either the oxidative or the nonoxidative branch alone is able to provide sufficient pentose phosphates to support growth has been demonstrated by studies of various microorganisms. Thus, Candida (Torxda) ulilis apparently uses the oxidative pathway only, even though it contains transaldolase and transketolase (16, 17). In contrast, Alcaligenes faecalis and Pseudomonas saccharophilia lack the oxidative branch (18,19). In some cases still different pathways of pentose phosphate synthesis may occur in bacteria. Human erythrocytes deficient in glucose-6-P dehydrogenase can synthesize pentose phosphates adequately via the nonoxidative branch (80). 

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