TY - CHAP M1 - Book, Section TI - Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency A1 - Wamelink, Mirjam M. C. A1 - Valayannopoulos, Vassili A1 - Jakobs, Cornelis A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. PY - 2019 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/12/02 UR - ommbid.mhmedical.com/content.aspx?aid=1181421082 ER -