RPIA deficiency: failed conversion of RU5P to R5P

Stable Identifier
R-HSA-6791461
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
RPIA deficiency: failed conversion of RU5P to R5P
Click the image above or here to open this pathway in the Pathway Browser

A mutation in ribose-5-phosphate isomerase (RPIA), an enzyme of the pentose phosphate pathway that normally mediates the reversible interconversion of D-ribulose 5-phosphate and ribose 5-phosphate, has been associated with a slowly progressive leukoencephalopathy (Wamelink et al. 2008).

Literature References
PubMed ID Title Journal Year
18987987 The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review

Wamelink, MM, Struys, EA, Jakobs, C

J Inherit Metab Dis 2008
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
BioModels Database
Authored
D'Eustachio, P  (2015-02-24)
Reviewed
Jassal, B  (2015-08-18)
Created
D'Eustachio, P  (2015-08-21)
Cite Us!