Transaldolase deficiency in a two-year-old boy with cirrhosis.
March 16th, 2008 | by admin |Transaldolase deficiency in a two-year-old boy with cirrhosis.
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.
Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands.