Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

@article{Valayannopoulos2006TransaldolaseDA,
  title={Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease},
  author={Vassili Valayannopoulos and Nanda M. Verhoeven and Karine Mention and Gajja Sophi Salomons and Dani{\`e}le Sommelet and Marie Gonzal{\`e}s and Guy Touati and Pascale de Lonlay and Cornelis Jakobs and J M Saudubray},
  journal={The Journal of pediatrics},
  year={2006},
  volume={149 5},
  pages={713-7}
}
Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4 infants born to the same consanguineous parents; all presented at birth or in the antenatal period with dysmorphic features, cutis laxa and hypertrichosis, hepatomegaly, splenomegaly, liver failure, hemolytic anemia, thrombocytopenia, and genitourinary malformations. The clinical courses were variable… CONTINUE READING

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