Transaldolase deficiency

Transaldolase deficiency
Classification and external resources
OMIM	606003

Transaldolase deficiency is a disease characterised by abnormally low levels of the Transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001.^[1]

References

^ Verhoeven NM, Huck JH, Roos B, et al. (May 2001). "Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway". Am. J. Hum. Genet. 68 (5): 1086–92. doi:10.1086/320108. PMC 1226089. PMID 11283793. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226089.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Lactose intolerance · Sucrose intolerance

Monosaccharide transport	Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism	fructose: Essential fructosuria · Fructose intolerance galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis	GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching

Glycogenolysis	extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency

Gluconeogenesis	PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency

Other

Hyperoxaluria (Primary hyperoxaluria) · Pentosuria

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)