Transaldolase deficiency in a two-year-old boy with cirrhosis.

  title={Transaldolase deficiency in a two-year-old boy with cirrhosis.},
  author={Mirjam M C Wamelink and Eduard Alexander Struys and Gajja Sophi Salomons and Darren M. Fowler and Cornelis Jakobs and Peter Theodore Clayton},
  journal={Molecular genetics and metabolism},
  volume={94 2},
Transaldolase (TALDO) deficiency is a rare inborn error of the pentose phosphate pathway. We report the clinical presentation and laboratory findings of a new patient with TALDO deficiency. The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given.