Cobalamin neuropathy was produced in cape fruit bats (Rousettus aegyptiacus) by a cobalamin-free diet combined with intermittent exposure to nitrous oxide, which inactivates cobalamin. There were no significant differences in S-adenosylmethionine/S-adenosylhomocysteine ratios in the central nervous system of cobalamin-deficient and cobalamin-replete bats. Taken with other data there are no grou...

The serum of an 84 year old man with disseminated carcinoma was found to contain extremely high concentrations of cobalamin and of a cobalamin binding protein with trans-cobalamin I characteristics. Tumour tissue samples obtained at necropsy contained considerably higher concentrations of cobalamin binding protein (R-binder) than normal tissues. Tumour tissues also contained increased concentra...

Study. Am J Clin Nutr 1996;63:306 18. McCaddon A, Davies G, Hudson P, et al. Total serum homocysteine in senile dementia of the Alzheimer’s type. Int J Geriatr Psychiatry 1998;13:235 19. Blijhan GH. Homocysteine metabolism 2nd international conference. Neth J Med 1998;52(suppl):S1 20. Miller JW, Green R, Allen LH, Mungas DM, Haan MN. Homocysteine correlates with cognitive function in the Sacram...

objective(s): incidence of neurocognitive and psychological disorders may be related to serum homocystein (hcy), cobalamin (vitamin b12 ) and folate levels in old people. the aim of this study was to assess the relation between hcy, cobalamin, folate and neurocognitive and/or psychological disorders in the elderly.   materials and methods: in this cross-sectional study, 280 subjects with ≥ 65 y...

In humans, three soluble extracellular cobalamin-binding proteins; transcobalamin (TC), intrinsic factor (IF), and haptocorrin (HC), are involved in the uptake and transport of cobalamin. In this study, we investigate a cobalamin-binding protein from zebrafish (Danio rerio) and summarize current knowledge concerning the phylogenetic evolution of kindred proteins. We identified a cobalamin bindi...

Cobalamin C deficiency (CblC) is the most frequent inborn error of cobalamin (Cbl) metabolism, which has a wide clinical spectrum. Cbl C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. Here we presented two distinct clinical forms of patients with CblC. First patient with early onset form was presented with failure to thrive, mild hypoto...

BACKGROUND Effects of circulatory arrest upon an inborn error of metabolism patient are unknown. METHODS A retrospective chart review was performed of outcome and biochemical parameters obtained during palliative cardiac surgery for a mutase-deficient methylmalonic aciduria patient with Ebstein's cardiac anomaly was performed. RESULTS The levels of ammonia, methylmalonic acid, free carnitin...

Vitamin B12 or cobalamin deficiency occurs frequently (> 20%) among elderly people, but it is often unrecognized because the clinical manifestations are subtle; they are also potentially serious, particularly from a neuropsychiatric and hematological perspective. Causes of the deficiency include, most frequently, food-cobalamin malabsorption syndrome (> 60% of all cases), pernicious anemia (15%...

Phenylketonuria (PKU) is an inborn error of phenylalanine (phe) and tyrosine (tyr) metabolism. It anautosomal recessive disease occurred due to deficiency liver enzyme hydroxylase (PAH).Hence, phe not converted tyr accumulated in the body. Phe thus channeled alternativeroutes metabolism forms Phenylketones excreted urine. Early treatment essential preventmental retardation other intellectual di...

Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical features of early-onset disease and prevent clinical symptoms in late-onset disease. Here we describe a patient in whom prenatal maternal treatment with 30 mg/week hydroxycobalamin and 5 mg/day folic acid from week 15 of ...