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Am J Hum Genet. 2001 May;68(5):1086-92. Epub 2001 Mar 27.

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

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Metabolic Unit, Department of Clinical Chemistry, VU Medical Center, 1007 MB Amsterdam, The Netherlands. N.Verhoeven@AZVU.NL


This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy. In urine and plasma, elevated concentrations of ribitol, D-arabitol, and erythritol were found. By incubating the patient's lymphoblasts and erythrocytes with ribose-5-phosphate and subsequently analyzing phosphate sugar metabolites, we discovered a deficiency of transaldolase. Sequence analysis of the transaldolase gene from this patient showed a homozygous deletion of 3 bp. This deletion results in absence of serine at position 171 of the transaldolase protein. This amino acid is invariable between species and is located in a conserved region, indicating its importance for enzyme activity. The detection of this new inborn error of pentose metabolism has implications for the diagnostic workup of liver problems of unknown etiology.

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