A newly discovered metabolic diseases due to defects in the pentose pathway
Tylki-Szymańska, A.; Stradomska, T.J.
Postepy Biochemii 57(2): 168-171
2011
ISSN/ISBN: 0032-5422 PMID: 21913417 Document Number: 654228
Two previously unreported 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 11 patients from 6 families in which the probands presented in the newborn and antenatal period with hepatospIenomegaly, hemolytic anaemia, hepatic fibrosis, kidney problems. Enzymes deficiency results in accumulations in body fluids erythritol, arabitol, ribitol, sedoheptitol, sedoheptulose, sedoheptulose-7-phosphate. Isomerase and transaldolase activity can be determined in leukocytes or fibroblasts.