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-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.
Tylki-Szymańska
Anna
A
Clinic of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. atylki@op.pl, a.tylki@czd.pl
Stradomska
Teresa J
TJ
Wamelink
Mirjam M C
MM
Salomons
Gajja S
GS
Taybert
Joanna
J
Pawłowska
Joanna
J
Jakobs
Cornelis
C
D002241:Carbohydrates / Q000652:urine; D016022:Case-Control Studies; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011108:Polymers / Q000032:analysis; D014153:Transaldolase / Q000172:deficiency*
D002241:Carbohydrates; D011108:Polymers; C024617:polyol; D014153:Transaldolase