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

Abstract

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.

• Authors: Mirjam M Wamelink, Eduard A Struys, Gajja S Salomons, Darren Fowler, Cornelis Jakobs, Peter T Clayton
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 94 Issue 2 Pg. 255-8 (Jun 2008) ISSN: 1096-7206 [Electronic] United States
• PMID: 18331807 (Publication Type: Case Reports, Comparative Study, Journal Article)

Chemical References

• Transaldolase

Topics

• Adolescent
• Child, Preschool
• Deafness (etiology)
• Humans
• Liver Cirrhosis (etiology, pathology)
• Male
• Metabolism, Inborn Errors (complications, enzymology, genetics)
• Mutation, Missense
• Pentose Phosphate Pathway
• Rickets (etiology)
• Transaldolase (deficiency, genetics, metabolism)
• Urine (chemistry)