TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P

Stable Identifier
R-HSA-6791055
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
TALDO1 deficiency: failed conversion of SH7P, GA3P to Fru(6)P, E4P
Click the image above or here to open this pathway in the Pathway Browser
Mutations in transaldolase 1 (TALDO1), an enzyme of the pentose phosphate pathway that normally mediates the reversible interconversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to form D-fructose 6-phosphate and D-erythrose 4-phosphate, have been associated with congenital liver disease (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
Authored
D'Eustachio, P  (2015-08-18)
Reviewed
Jassal, B  (2015-08-18)
Created
D'Eustachio, P  (2015-08-18)
Cite Us!