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

Nanda M. Verhoeven*, Jojanneke H.J. Huck, Birthe Roos, Eduard A. Struys, Gajja S. Salomons, Adriaan C. Douwes, Marjo S. Van der Knaap, Cornelis Jakobs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Article number61217
Pages (from-to)1086-1092
Number of pages7
JournalAmerican journal of human genetics
Issue number5
Publication statusPublished - 2001

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