Autoimmune Liver Diseases (ALDs) include Auto Immune Hepatitis (AIH), Primary Biliary Cirrhosis (PBC), and Primary Sclerosing Cholangitis (PSC). Pernicious Anemia (PA) involves an autoimmune process in which atrophy of the gastric mucosa reduces the production of Intrinsic Factor (IF) via parietal cells, inducing vitamin B12 deficiency and megaloblastic anemia [1-5]. Although autoimmune disease...

The influence of folate nutritional status on various pregnancy outcomes has long been recognized. Studies conducted in the 1950s and 1960s led to the recognition of prenatal folic acid supplementation as a means to prevent pregnancy-induced megaloblastic anemia. In the 1990s, the utility of periconceptional folic acid supplementation and folic acid food fortification emerged when they were pro...

The content of folate activity precursors in washed red cells and the enzymatic plasma factor activity, necessary for the release of folate from the precursors, were studied in normal subjects and in patients with megaloblastic anaemia of pregnancy. Subjects with megaloblastic anaemia of pregnancy had a significantly reduced folate activity precursor content, and 14 subjects (58%) had significa...

To the Editor: Thiamine responsive megaloblastic anemia (TRMA) syndrome is caused by the deficiency of thiamine transporter protein is a triad of diabetes mellitus, anemia, and deafness [1]. The only gene known to be associated with TRMA is SLC19A2, which encodes the high-affinity thiamine transporter [2]. A total of 28 mutations in the SLC19A2 gene have been reported in 70 patients [3]. We rep...

Fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA) syndrome with diabetes and deafness undergo apoptotic cell death in the absence of supplemental thiamine in their cultures. The basis of megaloblastosis in these patients has not been determined. Here we use the stable [1,2-13C2]glucose isotope-based dynamic metabolic profiling technique to demonstrate that defective...

Formiminotransferase deficiency syndrome1,2 was firstly discovered by us as a new inborn error of folate metabolism which was characterized by 1) mental retardation, 2) hyperfolic acidemia, and 3) an excessive urinary excretion of formiminoglutamic acid (FIGLU) following an oral dose of L-histidine. A definite diagnosis of this syndrome was established by demonstrating a defective activity of f...