Defective RPIA does not isomerize R5P to RU5P

Stable Identifier
R-HSA-5660015
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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A missense mutant form of RPIA (ribose 5-phosphate isomerase) fails to catalyze the reversible isomerization of ribose 5-phosphate (R5P) to ribulose 5-phosphate (RU5P). This enzyme defect was associated with a slowly progressive leukencephalopathy in the one patient who has been studied (Huck et al. 2004).

Literature References
PubMed ID Title Journal Year
14988808 Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

Huck, JHJ, Verhoeven, NM, Struys, EA, Salomons, GS, Jakobs, C, van der Knaap, MS

Am J Hum Genet 2004
Participants
Participates
Catalyst Activity

ribose-5-phosphate isomerase activity of RPIA A61V [cytosol]

Normal reaction
Functional status

Loss of function of RPIA A61V [cytosol]

Status
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
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Reviewed
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