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

Stable Identifier
R-HSA-6791462
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P
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Mutations in transaldolase 1 (TALDO1), an enzyme of the pentose phosphate pathway that normally mediates the reversible interconversion of D-fructose 6-phosphate and D-erythrose 4-phosphate to form sedoheptulose 7-phosphate and D-glyceraldehyde 3-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
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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  (2015-08-21)
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