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

J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):113-6. doi: 10.1097/MPG.0b013e3181f50388.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Genes
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Liver Failure, Acute / diagnosis
  • Liver Failure, Acute / etiology*
  • Liver Failure, Acute / metabolism
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Monosaccharides / urine
  • Mutation, Missense
  • Pentose Phosphate Pathway / genetics
  • Polymers / metabolism
  • Transaldolase / deficiency*
  • Transaldolase / genetics*
  • Transaldolase / metabolism

Substances

  • Monosaccharides
  • Polymers
  • polyol
  • Transaldolase