Defective TALDO1 does not transform SH7P, GA3P to Fru(6)P, E4P

Stable Identifier
Reaction [transition]
Homo sapiens
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Defective TALDO1 (transaldolase 1) fails to transform sedoheptulose 7-phosphate (SH7P) and glyceraldehyde 3-phosphate (GA3P) to fructose 6-phosphate (Fru(6)P) and erythrose 4-phosphate (E4P). This defect has been associated with congenital liver disease and an array of other symptoms. The deficiency was first described by Verhoeven and colleagues (2001). Both the range and severity of these abnormalities are variable from patient to patient (Wamelink et al. 2008a; Eyaid et al. 2013). The three missense mutant alleles annotated here are associated with absence of detectable transaldolase activity in tissues from homozygous affected individuals (LeDuc et al. 2014; Verhoeven et al. 2005; Wamelink et al. 2008b).
Literature References
PubMed ID Title Journal Year
11283793 Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven, NM, van der Knaap, MS, Salomons, GS, Struys, EA, Douwes, AC, Jakobs, C, Huck, JHJ, Roos, B

Am J Hum Genet 2001
24097415 Novel association of early onset hepatocellular carcinoma with transaldolase deficiency

Wilson, A, Wamelink, MM, Chung, WK, Shen, Y, Salomons, GS, Crouch, EE, Sun, X, Jakobs, C, Leduc, CA, Lefkowitch, J

JIMD Rep 2014
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
18331807 Transaldolase deficiency in a two-year-old boy with cirrhosis

Wamelink, MM, Fowler, D, Salomons, GS, Clayton, PT, Struys, EA, Jakobs, C

Mol. Genet. Metab. 2008
23315216 Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Al Balwi, M, Eyaid, W, Wamelink, MM, Alfadhel, M, Anazi, S, Al Harbi, T, Al Salammah, M, Alkuraya, FS, Jakobs, C

J. Inherit. Metab. Dis. 2013
15877206 A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

Verhoeven, NM, Ballauf, A, Voit, T, Neudorf, U, Wallot, M, van der Knaap, MS, Salomons, GS, Dirsch, O, Jakobs, C, Huck, JHJ

J. Inherit. Metab. Dis. 2005
Catalyst Activity

transaldolase activity of TALDO1 mutant dimers [cytosol]

Normal reaction
Functional status

Loss of function of TALDO1 mutant dimers [cytosol]

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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