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

Mirjam M Wamelink; Eduard A Struys; Gajja S Salomons; Darren Fowler; Cornelis Jakobs; Peter T Clayton

doi:10.1016/j.ymgme.2008.01.011

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

Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10.

Authors

Mirjam M Wamelink¹, Eduard A Struys, Gajja S Salomons, Darren Fowler, Cornelis Jakobs, Peter T Clayton

Affiliation

¹ Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands. M.Wamelink@vumc.nl

PMID: 18331807
DOI: 10.1016/j.ymgme.2008.01.011

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.

Publication types

Case Reports
Comparative Study

MeSH terms

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

Substances

Transaldolase