Unknown

Dataset Information

0

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

ABSTRACT: This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). 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.

SUBMITTER: Verhoeven NM 

PROVIDER: S-EPMC1226089 | biostudies-literature | 2001 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Verhoeven N M NM   Huck J H JH   Huck J H JH   Roos B B   Struys E A EA   Salomons G S GS   Douwes A C AC   van der Knaap M S MS   Jakobs C C  

American journal of human genetics 20010327 5

This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). 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  ...[more]

Similar Datasets

Unknown Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
| S-EPMC1181951 | biostudies-literature
Unknown The pentose phosphate pathway of cellulolytic clostridia relies on 6-phosphofructokinase instead of transaldolase.
| S-EPMC7029132 | biostudies-literature
Unknown Targeting the Pentose Phosphate Pathway: Characterization of a New 6PGL Inhibitor.
| S-EPMC6289167 | biostudies-literature
Unknown Interaction between the pentose phosphate pathway and gluconeogenesis from glycerol in the liver.
| S-EPMC4239613 | biostudies-literature
Unknown Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
| S-EPMC1275637 | biostudies-literature
Unknown Queueing theory model of pentose phosphate pathway.
| S-EPMC8930976 | biostudies-literature
Unknown Neuroferritinopathy: a new inborn error of iron metabolism.
| S-EPMC4038507 | biostudies-literature
Unknown New reaction sequences for the non-oxidative pentose phosphate pathway.
| S-EPMC1186226 | biostudies-other
Unknown Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.
| S-EPMC8469686 | biostudies-literature
Unknown Elevated pentose phosphate pathway flux supports appendage regeneration.
| S-EPMC10569227 | biostudies-literature