title: 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.affiliation: Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands. M.Wamelink@vumc.nl
authors.forename: Mirjam M
authors.initials: MM
authors.lastname: Wamelink
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Darren
authors.initials: D
authors.lastname: Fowler
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003638:Deafness / Q000209:etiology; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D020125:Mutation, Missense; D010427:Pentose Phosphate Pathway; D012279:Rickets / Q000209:etiology; D014153:Transaldolase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D014556:Urine / Q000737:chemistry
chemical_list: D014153:Transaldolase