Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a 460-kD receptor, cubilin, present in the epithelium of intestine and kidney. Surface plasmon resonance analysis of ligand-affinity-purified human cubilin demonstrated a highaffinity calciumand cobalamin-dependent binding of IFcobalamin. Complete cDNA cloning of the hum...

An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified. The proband presented with SCID, megaloblastic anemia, and neurologic abnormalities, but the causal metabolic impairment is unknown. SCID has been associated with impaired purine nucleotide metabolism, whereas megaloblastic anemia has been associated ...

UNLABELLED Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually ...

Uptake of vitamin B12 (cyanocobalamin) is facilitated by the cobalamin-binder gastric intrinsic factor (IF), which recognizes a 460-kD receptor, cubilin, present in the epithelium of intestine and kidney. Surface plasmon resonance analysis of ligand-affinity-purified human cubilin demonstrated a high-affinity calcium- and cobalamin-dependent binding of IF-cobalamin. Complete cDNA cloning of the...

vitamin b12 (cobalamin) is an essential coenzyme for nucleic acid synthesis. animal protein is the major dietary source of vitamin b12. deficiency of vitamin b12 leads to megaloblastic anemia, degeneration of the brain, spinal cord, peripheral nerves, and abnormalities of epithelial tissues. two factors are necessary for the cure of megaloblastic anemia: one in food (extrinsic factor) and one i...

The human thiamine transporter hTHTR1 is involved in the cellular accumulation of thiamine (vitamin B1) in many tissues. Thiamine deficiency disorders, such as thiamine-responsive megaloblastic anemia (TRMA), which is associated with specific mutations within hTHTR1, likely impairs the functionality and/or intracellular targeting of hTHTR1. Unfortunately, nothing is known about the mechanisms t...

Introduction Atrial standstill (AS), a rare arrhythmogenic condition, is defined by (1) the absence of P waves in surface and intracavitary electrocardiograms (ECGs), (2) the absence of A waves in jugular venous pulse and right atrial pressure tracings, (3) the presence of a supraventricular type QRS complex, (4) the immobility of the atria on fluoroscopy, and (5) the inability to stimulate the...