RT Book, Section
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.
SR Print(0)
ID 1181421082
T1 Ribose-5-Phosphate Isomerase Deficiency and Transaldolase Deficiency
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181421082
RD 2024/12/02
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.