Transaldolase deficiency

Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes the PPP. The severity of the symptoms can vary, ranging from fetal hydrops to slowly progressive liver cirrhosis, but patients show common symptoms like hydrops fetalis, dysmorphic features, liver dysfunction (cirrhosis), hemolytic anemia with renal involvement, and heart problems. The biochemical profile indicates an elevated level of erythritol, arabitol, ribitol, sedoheptitol, perseitol, sedoheptulose, mannoheptulose, and sedoheptulose-7P. The disorder is caused by mutations in the TALDO gene.

Inherited metabolic disease

TALDO1 [HSA:6888] [KO:K00616]

PMID:19401148

Samland AK, Sprenger GA

Transaldolase: from biochemistry to human disease.

Int J Biochem Cell Biol 41:1482-94 (2009)
DOI:10.1016/j.biocel.2009.02.001

PMID:17613166

Perl A

The pathogenesis of transaldolase deficiency.

IUBMB Life 59:365-73 (2007)
DOI:10.1080/15216540701387188

PMID:21119539

Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

J Pediatr Gastroenterol Nutr 52:113-6 (2011)
DOI:10.1097/MPG.0b013e3181f50388