The pentose phosphate pathway (PPP) is a fundamental component of cellular metabolism.
The PPP is important to maintain carbon homoeostasis, to provide precursors for nucleotide …

Metabolism of glucose through the pentose phosphate pathway (PPP) influences the
development of diverse pathologies. Hemolytic anemia due to deficiency of PPP enzyme …

Purpose Transaldolase deficiency is a recently described inborn error of pentose phosphate
pathway. We conducted this study to further delineate the associated phenotype. Methods …

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

The hexose monophosphate (HMP) shunt acts as an essential component of cellular
metabolism in maintaining carbon homeostasis. The HMP shunt comprises two phases viz …

Erythritol is a non-nutritive sugar replacement that can be endogenously produced by
humans. Witkowski et al. reported that elevated circulating erythritol is associated with …

We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma
and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine …

Transaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by
variants in the TALDO1 gene that commonly results in multisystem dysfunction. Herein, we …

Introduction 3. The neuronal ceroid lipofuscinoses (Batten disease) 3.1. Nature of ceroid
lipofuscin 3.2. Clinical features of ceroid lipofuscinoses 3.2. 1. CLN1 3.2. 2. CLN2 3.2. 3 …

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 …