BACKGROUND: Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key
diagnostic metabolites in TALDO deficiency. METHOD: Urine from 6 TALDO-deficient …

Transaldolase (TALDO) deficiency has various clinical manifestations including liver
dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We …

Abstract Introduction: Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn
autosomal recessive error of the pentose phosphate pathway that, to date, has been …

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 …

TAL (transaldolase) was originally described in the yeast as an enzyme of the PPP (pentose
phosphate pathway). However, certain organisms and mammalian tissues lack TAL, and the …

Abstract Background Transaldolase deficiency (TALDO‐D) is a rare autosomal recessive
inborn error of the pentose phosphate pathway. Since its first description in 2001, several …

Transaldolase (TALDO) deficiency (OMIM# 606003), a recently recognized new inborn error
of the pentose phosphate pathway (PPP), has been reported to date in only 10 patients from …

Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism
characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic …

The role of the enzyme transaldolase (TAL) in central metabolism, its biochemical
properties, structure, and role in human disease is reviewed. The nearly ubiquitous enzyme …

This paper describes the second patient found to be affected with a deficiency of
transaldolase (TALDO1; EC 2.2. 1.2). Clinically, this patient presented in the neonatal period …