RPIA deficiency: failed conversion of R5P to RU5P

Stable Identifier
R-HSA-5659996
Type
Pathway
Species
Homo sapiens
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A mutation in ribose-5-phosphate isomerase (RPIA), an enzyme of the pentose phosphate pathway that normally mediates the reversible interconversion of ribose 5-phosphate and D-ribulose 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
Participant Of
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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