KEGG DISEASE: Transaldolase deficiency

KEGG

DISEASE: Transaldolase deficiency

Entry

H01189                      Disease

Name

Transaldolase deficiency

Description

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 in 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.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H01189  Transaldolase deficiency

Pathway

Pentose phosphate pathway

Gene

TALDO1 [HSA:6888] [KO:K00616]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Samland AK, Sprenger GA

Title

Transaldolase: from biochemistry to human disease.

Journal

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

Reference

Authors

Perl A

Title

The pathogenesis of transaldolase deficiency.

Journal

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

Reference

Authors

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

Title

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

Journal

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

LinkDB

» Japanese version

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