Hereditary juvenile megaloblastic anemia due to vitamin B12 (cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the disease is fatal. Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cau...

BACKGROUND Haptocorrin (HC) carries the major part of circulating cobalamin, but whether HC is altered on treatment with vitamin B12 remains unknown. METHODS Our study included 3 populations: a population of vegan men (n = 174; vegan population), of whom 63 were treated daily with 5 mg of oral vitamin B12 for 3 months; a group of patients with a previous methylmalonic acid (MMA) concentration...

Determination of homocysteine in plasma or serum for evaluation of cobalamin and folate deficiency is becoming an important diagnostic procedure. Accurate, rapid and low cost methods for measuring homocysteine are therefore required. We have improved an HPLC method and made it suitable for clinical application. The more important changes are the addition of an internal standard, mercaptopropion...

Vitamin B12 deficiency is probably more common than what reported in the literature. an essential vitamin, and its can lead to neuropsychiatric manifestations such as peripheral neuropathy, myelopathy, cerebellar ataxia, dementia, delirium, even psychosis mood disorders. We report a case of 45 year old polish male presented with symptoms signs suggestive SCD spinal cord, due severe vitamin resu...

A patient with chronic alcoholism presented with myelopathy and low serum folate and cobalamin levels. A 42-year-old alcoholic man had gait disturbance for 4 months. A neurological examination revealed marked spasticity with increased deep tendon reflexes and extensor plantar responses of the lower limbs. His cobalamin level was decreased and his serum folate level was particularly low. His pla...

n engl j med 367;4 nejm.org july 26, 2012 385 Failures of Cobalamin Assays in Pernicious Anemia To the Editor: Cobalamin (vitamin B12) assays have been central to the diagnosis of clinical cobalamin deficiency such as pernicious anemia because the diagnostic sensitivities of older assays have been approximately 95%.1 However, the competitive-binding luminescence assay (CBLA) replaced older micr...

A patient presented at the age of 77 yr with a low serum cobalamin level. Subsequent study showed that he had persistently very low R binder (TC I) cobalamin-binding capacity in serum (< 5 ng/liter versus 213 ± 171 ng/liter in normal controls). and that almost all of his endogenous serum cobalamin was carried by TC II instead of TC I. His saliva also demonstrated virtually undetectable R binder...

A patient presented at the age of 77 yr with a low serum cobalamin level. Subsequent study showed that he had persistently very low R binder (TC I) cobalamin-binding capacity in serum (< 5 ng/liter versus 213 ± 171 ng/liter in normal controls). and that almost all of his endogenous serum cobalamin was carried by TC II instead of TC I. His saliva also demonstrated virtually undetectable R binder...

Vitamin B12 (cobalamin) deficiency associated neuropathy, originally called subacute combined degeneration, is particularly common in the elderly. The potential danger today is that with supplementation with folic acid of dietary staples such as flour, that the incidence of this disease could rise as folic acid, as opposed to natural folate (N5CH3HFGlu1), enters the cell and the metabolic cycle...

BACKGROUND Cobalamin (vitamin B12) deficiency, the most common cause of megaloblastic anemia, is treated with intramuscular (IM) cobalamin. It has been suggested by some investigators that oral (p.o.) cobalamin treatment may be as effective in the treatment of this condition, with the advantages of ease of administration and lower cost. OBJECTIVE This study assessed the effects and cost of p....