title: [A newly discovered metabolic diseases due to defects in the pentose pathway].
abstract: 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.
authors.affiliation: Klinika Chorób Metabolicznych, Instytut Pomnik-Centrum Zdrowia Dziecka, Warszawa. a.tylki@czd.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
authors.forename: Teresa J
authors.initials: TJ
authors.lastname: Stradomska
mesh_terms: D019747:Aldose-Ketose Isomerases / Q000172:deficiency*; D006801:Humans; D007535:Isomerases / Q000172:deficiency; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D010427:Pentose Phosphate Pathway
chemical_list: D007535:Isomerases; D019747:Aldose-Ketose Isomerases; C022548:ribosephosphate isomerase