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Abstract

Abstract  Two new inborn errors of metabolism occur in the reversible part of the pentose phosphate pathway. Deficiency of ribose-5-phosphate isomerase has been described in one patient who suffered from a progressive leukoencephalopathy and developmental delay. Transaldolase deficiency has been diagnosed in more than 20 patients. Patients present with a great phenotypic variability, many display the first symptoms in the neonatal or even antenatal period. The most frequent manifestations associate hemolytic anemia, hepatosplenomegaly, impaired liver function leading to liver failure and histological changes (fibrosis, cirrhosis). Both disorders are inherited in an autosomal recessive mode. Whereas essential pentosuria is a defect in the glucuronic acid pathway, the two newly discovered defects are in the reversible part of the pentose phosphate pathway.

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