Transaldolase deficiency in two new patients with a relative mild phenotype

Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the pentose phosphate pathway that so far has been diagnosed in only eight patients. In this article, we report the clinical course and biochemical findings of two newly identified patients with TALDO deficiency—t...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2009-05, Vol.97 (1), p.15-17
Main Authors: Tylki-Szymańska, Anna, Stradomska, Teresa J., Wamelink, Mirjam M.C., Salomons, Gajja S., Taybert, Joanna, Pawłowska, Joanna, Jakobs, Cornelis
Format: Article
Language:English
Subjects:
Anemia
Carbohydrates - urine
Case-Control Studies
Child, Preschool
Humans
Infant
Infant, Newborn
Liver fibrosis
Male
Neonatal haemorrhagic diathesis
Pentose phosphate pathway
Phenotype
Polymers - analysis
Polyol concentrations
Sedoheptulose
Transaldolase - deficiency
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Summary:Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the pentose phosphate pathway that so far has been diagnosed in only eight patients. In this article, we report the clinical course and biochemical findings of two newly identified patients with TALDO deficiency—two sons of consanguineous parents from Polish origin, presenting with neonatal onset of bleeding diathesis, haemolytic anemia, thrombocytopenia and hepatosplenomegaly. Subsequently the patients had persistent thrombocytopenia, a bleeding tendency, impaired liver function and fibrosis. Their physical and psychomotor development progressed normally.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2009.01.016