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 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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01189  Transaldolase deficiency
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
hsa00030  Pentose phosphate pathway
Gene
TALDO1 [HSA:6888] [KO:K00616]
Other DBs
ICD-11: 5C51.0
ICD-10: E74.8
MeSH: C563207
OMIM: 606003
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
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