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Thiamine pyrophosphokinase deficiency causes a Leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

The answer depends on the biological pathway being targeted

Diabetes mellitus and vascular complications Patients with diabetes mellitus have been reported to have low plasma concentrations and high renal clearance of thiamin (40, 41), suggesting that individuals with type 1 or type 2 diabetes are at increased risk for thiamin deficiency

The 8013 hyperinvasive meningococcus strain remains trapped and survives in the mucus layer in Calu3 grown on ALI (Peters et al., 2024), suggesting the use of a transcellular route

Both 5OXP and OPA are likely general biomarkers for oxidative stress and GSH deficiency rather than APAP specific biomarkers, but elevated urinary 5OXP is seen in humans suffering from APAP overdose and is often clinically reported as anion gap metabolic acidosis.3234 A systems biology approach, developed using in vitro studies in THLE-2E1 cells (CYP2E1-transfected SV40 large T-antigen immortalized human liver epithelial cells) resulted in a computational model that used the relative concentrations of OPA and 5OXP to predict intracellular concentrations of GSH (Fig