1. Objective: To enhance the effectiveness and confidence in treating patients with rare
metabolic disorders complicated by even more complex presentation. 1.2. Case: We report a …

Eyaid's syndrome or Transaldolase Deficiency (TD)(OMIM 606003) is a rare autosomal
recessive inborn error of metabolism. In this report, we describe the case of an eight-year …

Abstract Background Transaldolase (TALDO) deficiency (OMIM# 606003) is a rare
autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast …

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

Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate
metabolism caused by pathogenic/likely pathogenic biallelic mutations in the TALDO1 gene …

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 …

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 …

Severe Infantile Transaldolase Deficiency Page 1
 …

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

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 …