vitamin-b-12 and Acidosis

Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; Glutaryl-CoA Dehydrogenase; Humans; Intestinal Absorption; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methemoglobinemia; Methylmalonic Acid; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Propionates; Pyridoxine; Pyruvate Carboxylase Deficiency Disease; Pyruvate Kinase; Riboflavin; Tetrahydrofolate Dehydrogenase; Thiamine; Transcobalamins; Vitamin B 12; Vitamins

This study aimed at investigating Enterococcus faecium alone or E. faecium in combination with Saccharomyces cerevisiae or Lactococcus lactis during a subacute ruminal acidosis (SARA) challenge. Four ruminally fistulated Holstein dairy cows were assigned to the following treatments in a 4×4 Latin square design: (1) control (CON); (2) E. faecium (EF); (3) EF + S. cerevisiae (EFSC); (4) EF + L. lactis DSM 11037 (EFLL). Each experimental period consisted of 18 d of adaptation to the respective direct-fed microbial, 3 d of SARA challenge, and 7d of rest. Rumen pH was recorded every 10 min over 24 h on d 17 of adaptation, d 2 of SARA, and d 6 of rest. On the last day of adaptation, SARA, and rest, samples of rumen content (0 and 3 h after feeding) were taken for volatile fatty acids, lactate, vitamin B12, rumen microbes, and lipopolysaccharides determination. Blood samples (0 and 6 h after feeding) were taken for the measurement of acute-phase proteins. Dry matter intake and milk yield were recorded daily. During SARA, mean rumen pH with EFSC (5.94) was not different from that of EFLL (5.95) and tended to be higher than with CON (5.82) or EF (5.82). Postfeeding vitamin B12 concentrations in the rumen were greater with EFSC (134.5ng/g) than with EF (99.6ng/g) and tended to be greater when compared with CON (101.2ng/g) or EFLL (104.9ng/g). During rest, prefeed vitamin B12 was greater with EFSC (166.5ng/g) compared with CON (132.3ng/g). The EFSC treatment did better than EF alone on pH characteristics during adaptation and SARA and on maintenance of ruminal vitamin B12 status during SARA. Milk yield drop from d 1 to 3 of SARA was smaller with EFSC (-0.8kg/d), EF (-0.9kg/d), or EFLL (-0.9kg/d) compared with CON (-7.5kg/d).

Topics: Acidosis; Acute-Phase Proteins; Adaptation, Physiological; Animals; Cattle; Cattle Diseases; Dairying; Diet; Enterococcus faecium; Fatty Acids, Volatile; Female; Hydrogen-Ion Concentration; Lactation; Lactic Acid; Lactococcus lactis; Lipopolysaccharides; Milk; Oxidation-Reduction; Rumen; Saccharomyces cerevisiae; Vitamin B 12

Topics: Acidosis; Diabetic Ketoacidosis; Humans; Hydrogen-Ion Concentration; Infant; Ketosis; Male; Vitamin B 12

The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form. Here we describe the case of a four year-old boy, with diagnosis of methylmalonyl-CoA mutase deficiency type mut(-) with an acute presentation. Molecular analysis of MUT gene identified two mutations c.607G>A (G203R) and c.2080C>T (R694W), later confirmed in the parents. The aim of this report is to highlight the importance of including the organic acid analysis in urine among the first line exams in acutely and severely ill children with undefined etiology. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the secuelae.

Topics: Acidosis; Amino Acid Substitution; Child, Preschool; Coma; Diet, Protein-Restricted; Diseases in Twins; Fertilization in Vitro; Genes, Recessive; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation, Missense; Point Mutation; Twins, Dizygotic; Vitamin B 12; Vomiting

Methylmalonic acidemia (MMA) is caused by the deficient activity of l-methylmalonyl-CoA mutase, which is a vitamin B(12) (or cobalamin, Cbl)-dependent enzyme. MMA due to the effect of insufficient Cbl metabolism is classified into three forms (cblA, cblB, and cblH). Recently, the genes responsible for cblA and cblB were identified as MMAA and MMAB, respectively. The MMAA protein likely transports Cbl into the mitochondria for adenosylcobalamin synthesis, while the MMAB protein appears to be an adenosyltransferase. We performed a mutation analysis of 10 unrelated Japanese patients with vitamin B(12)-responsive MMA. Seven patients had mutations in MMAA, whereas the other three patients showed no disease-causing substitutions in either MMAA or MMAB. Five novel mutations were identified in MMAA (R22X, R145X, L217X, R359G, and 503delC). The 503delC mutation was observed in five of the seven MMAA patients, suggesting that the mutation is prevalent in Japanese patients. This finding may facilitate the DNA diagnosis of vitamin B(12)-responsive MMA within the Japanese population.

Topics: Acidosis; Alkyl and Aryl Transferases; Amino Acid Sequence; DNA Mutational Analysis; Humans; Japan; Membrane Transport Proteins; Methylmalonyl-CoA Mutase; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Molecular Sequence Data; Mutation; Syndrome; Vitamin B 12

PURPOSE In continent urinary diversion metabolic disturbances may be encountered in long-term followup. We evaluated metabolic consequences in patients with a minimum followup of 5 years after Mainz pouch 1 urinary diversion.. At our institution continent urinary diversion using the ileocecal segment was performed between 1983 and 1995 in 458 patients. A total of 94 patients with an ileocecal pouch for a minimum of 5 years were reevaluated for metabolic changes. Median followup was 9.0 years. Routine laboratory parameters, blood gas analysis, vitamin B12, vitamin D25, cross-laps, bone specific alkaline phosphatase, osteocalcin and propeptide of type I collagen were obtained. Bone density was measured in 18 patients. Vitamin B12 changes could be followed longitudinally in 24 patients.. Medians of all parameters were in normal ranges. Clinical examinations revealed no signs of megaloblastic anemia, funicular myelosis or osteoporosis. There was no significant decrease of vitamin B12 in the long run. After followup examination we recommended vitamin B12 supplementation in 32% of patients because levels were in the lower normal range or below. A total of 37% of patients continue to take Na+/K+-citrate for prevention of metabolic acidosis.. Patients with an ileocecal pouch and a followup of more than 5 years did not present with clinical symptoms caused by metabolic disturbances. Nevertheless, systematic followup of blood gases in particular and alkali supplementation may have prevented bone demineralization. Followup of vitamin B12 is of concern because about a third of these patients need supplementation.

Topics: Acidosis; Adult; Aged; Alkaline Phosphatase; Blood Gas Analysis; Bone Density; Calcitriol; Citrates; Collagen; Energy Metabolism; Female; Follow-Up Studies; Humans; Male; Middle Aged; Osteocalcin; Phosphopeptides; Postoperative Complications; Potassium Citrate; Procollagen; Reference Values; Sodium Citrate; Urinary Reservoirs, Continent; Vitamin B 12

Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late-onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20-year-old woman with vitamin B12-unresponsive methylmalonic acidaemia who has these late-onset manifestations of the disease and had plasma methylmalonic acid concentrations of 1900 mumol/L during the first trimester of pregnancy.

Topics: Acidosis; Adult; Female; Humans; Hydroxocobalamin; Infant, Newborn; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Vitamin B 12

To examine fetal and maternal serum cobalamin and ferritin concentrations in pregnancies complicated by fetal growth retardation.. Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London.. Cross sectional study.. Fetal blood samples obtained by cordocentesis from 20 growth retarded fetuses at 26 to 36 weeks of gestation. Maternal venous blood was also collected and serum ferritin and cobalamin concentrations were measured by radio-immunoassay in the fetal and maternal samples.. In the growth retarded group, the mean fetal serum concentration of cobalamin was higher than the normal mean for gestation (t = 3.27, P < 0.01), and this increase was significantly associated with fetal acidaemia (r = -0.686, P < 0.001) and erythroblastosis (r = 0.731, P < 0.001). In contrast, the fetal to maternal ferritin ratio was significantly reduced; there was a nonsignificant decrease in fetal serum and an increase in maternal serum ferritin concentration. There was an association between fetal serum ferritin concentration and erythrocyte count (r = -0.612, P < 0.01).. In placental insufficiency, as in postnatal starvation and Kwashiorkor syndrome, uptake and storage of cobalamin by the fetal liver may be impaired. The decrease in fetal to maternal ratio of ferritin could be the consequence of impaired placental perfusion.

Topics: Acidosis; Cross-Sectional Studies; Erythroblasts; Erythrocyte Count; Female; Ferritins; Fetal Blood; Fetal Growth Retardation; Gestational Age; Humans; Hydrogen-Ion Concentration; Placental Insufficiency; Pregnancy; Vitamin B 12

Topics: Acidosis; Amino Acids; Ammonia; Child, Preschool; Female; Fibroblasts; Humans; Ketones; Ketosis; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Vitamin B 12

Topics: Acidosis; Administration, Oral; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnancy Complications; Prenatal Care; Prenatal Diagnosis; Prognosis; Vitamin B 12

The most important side-effect of sulfonylureas is hypoglycaemia. According to surveys in Switzerland and in Sweden it occurs at a frequency of about 2 cases per 10,000 treatment years. Mortality is high, about 10%. The syndrome of inappropriate ADH-secretion has been observed almost exclusively during treatment with chlorpropamide. Asymptomatic cases of SIADH-syndrome are quite frequent, hyponatraemia has been observed in 6-10% of diabetics treated with chlorpropamide. The most dangerous side-effect of biguanides is lactic acidosis. It occurs significantly more frequent during treatment with phenformin compared to metformin. Metformin has been reported to lead to lactic acidosis in 0.4 cases per 10,000 treatment years; mortality is about 30%. Mortality of phenformin-associated lactic acidosis is even higher, 70%. Both biguanides, phenformin and metformin, cause relatively frequently vitamin B12-malabsorption (in about 1/3 of the cases). However, symptomatic vitamin B12-deficiency is extremely rare.

Topics: Acidosis; Biguanides; Chlorpropamide; Diabetes Mellitus, Type 2; Female; Humans; Hypoglycemia; Hypoglycemic Agents; Inappropriate ADH Syndrome; Malabsorption Syndromes; Male; Middle Aged; Sulfonylurea Compounds; Sweden; Switzerland; Vitamin B 12

Topics: Acidosis; Animals; Cattle; Cattle Diseases; Ketosis; Vitamin B 12

The tendency towards metabolic acidosis developing during simple infections lead to the detection of hyperglycinemia which was shown to be caused by the rare inborn error of metabolism, which was shown to be a methylmalonic acidemia, in identical twins. Under a protein restricted diet and vitamin-B12-injections once a week, all clinical symptoms disappeared so that vitamin-B12-dependency became evident. Under this therapeutic regimen methylmalonic aciduria was well under control.

Topics: Acidosis; Diseases in Twins; Glycine; Humans; Infant; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12

The biochemical and therapeutic responses to dietary therapy were studied in a 25-month-old girl and a 1-month-old girl with methylmalonic acidemia (MMA-emia), which was unresponsive to vitamin B12. The minimum daily intake of protein which patients could tolerate and display a good development was between 1.0 and 1.2 g per kg body weight. Supplementation with amino acid mixture devoid of toxic amino acids was required to prevent protein malnutrition when daily protein intake was restricted to 0.6 g per kg body weight. Caloric intake should be sufficient, not only to promote growth but also to prevent a rise in MMA level, especially when a patient has ketoacidosis. It was found that MMA excretion per mg creatinine in random urine specimens correlated significantly with serum MMA and twenty four-hour output of MMA per kg body weight. Therefore measurement of MMA in a single urine specimen is useful for evaluating the in vivo accumulation of MMA.

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Creatinine; Dietary Proteins; Female; Humans; Infant; Keto Acids; Malonates; Methylmalonic Acid; Vitamin B 12

Examination of bovine serum by the diethylaminoethyl cellulose small column method revealed three proteins binding vitamin B12. The elution pattern suggested that they are similar to the three transcobalamins recognized in human serum. Distribution of unbound binding capacity among serum binders was assessed in serum from normal, ketotic, and B12- and Factor B-supplemented cows in early lactation. No major differences were observed among groups; however, cow serum displayed a pattern different from human serum. Mean total binding capacity of bovine serum for B12 as well as mean unbound binding capacity were lower than the corresponding means for human serum.

Topics: Acidosis; Animals; Carrier Proteins; Cattle; Cobamides; Female; Humans; Infant, Newborn; Ketosis; Lactation; Pregnancy; Protein Binding; Species Specificity; Vitamin B 12

Topics: Acidosis; Humans; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pediatric Nursing; Vitamin B 12

A 3-month-old male infant had two episodes of fever, projectile vomiting, dehydration, generalized fine tremors and gross metabloic ketoacidosis. Methylmalonic acid was found in high concentration in both serum and urine, although the concentration of serum vitamin B12 was normal. A therapeutic trial of vitamin B12, administered parenterally, reduced greatly the methylmalonic aciduria. The patient has since been given vitamin B12 supplements continuously, initially 1 mg intramuscularly every other day, then 15 mg/d orally, and the protein in his diet was subsequently restricted. The most effected control of the methylmalonic aciduria was achieved with the combined regimen of oral vitamin therapy and dietary protein restriction. His physical and intellectual development have progressed normally and he has survived several acute respiratory tract infections without recurrence of metabolic acidosis.

Topics: Acidosis; Administration, Oral; Humans; Infant; Male; Malonates; Methylmalonic Acid; Vitamin B 12

Topics: Acidosis; Ascorbic Acid; Blood; Cholesterol; Gastrointestinal Diseases; Glycosuria; Humans; Hydrogen-Ion Concentration; Hyperglycemia; Kidney Calculi; Oxalates; Prothrombin; Vitamin B 12

Topics: Acidosis; Adult; Cyanides; Cyanosis; Gastric Lavage; Gastrointestinal Hemorrhage; Humans; Hydrogen Cyanide; Hydrogen-Ion Concentration; Hydroxocobalamin; Hypotension; Liver; Middle Aged; Poisoning; Suicide; Time Factors; Vitamin B 12

Topics: Acidosis; Agranulocytosis; Blood Glucose; Cephalometry; Child Development; Diet Therapy; Electroencephalography; Female; Growth Disorders; Humans; Infant; Intelligence; Isoleucine; Lymphocytosis; Malonates; Metabolism, Inborn Errors; Methionine; Otitis Media; Threonine; Valine; Vitamin B 12

Topics: Acidosis; Awards and Prizes; Child; Coenzymes; Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Lactates; Malonates; Metabolism, Inborn Errors; Methane; Pregnancy; Propionates; Pyruvates; Succinates; Valerates; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Acidosis; Diabetes Mellitus; Folic Acid; Humans; Intestinal Absorption; Lactates; Metformin; Phenformin; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Acidosis; Amino Acids; Aminobutyrates; Brain; Chromatography, Paper; Fibroblasts; Homocystine; Humans; Hydro-Lyases; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Kidney; Liver; Male; Malonates; Metabolism, Inborn Errors; Methionine; Transferases; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Acidosis; Anemia; Blood Cells; Child, Preschool; Chromatography, Paper; Dietary Proteins; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Vitamin B 12

Topics: Acidosis; Animals; Blood Glucose; Cattle; Cattle Diseases; Female; Ketones; Lactation; Milk; Pregnancy; Pregnancy, Animal; Propionates; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Coenzyme A; Diet Therapy; Dietary Proteins; Humans; Isoleucine; Ketones; Leucine; Leukocytes; Male; Malonates; Methionine; Nutritional Requirements; Propionates; Threonine; Valine; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Genes, Recessive; Glycine; Hepatomegaly; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Malonates; Pedigree; Vitamin B 12; Vomiting

Topics: Acidosis; False Positive Reactions; Humans; Intellectual Disability; Malonates; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Coenzyme A; Dietary Proteins; Glycine; Humans; Infant; Intellectual Disability; Isomerases; Ketone Bodies; Ligases; Male; Malonates; Vitamin B 12

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Glycine; Humans; Infant; Intellectual Disability; Ketone Bodies; Male; Malonates; Vitamin B 12

Methylmalonic aciduria is an inborn error of metabolism characterized by neonatal or infantile ketoacidosis. Leukocytes isolated from the peripheral blood of a 1-year-old child with this disorder converted negligible quantities of propionate-3-C(14) to carbon dioxide, but oxidized succinate-1,4-C(14) normally, an indication of a block in the conversion of propionate to succinate. Parenteral administration of vitamin B(18) resulted in a reduction in methylmalonic acid excretion and an increase in propionate oxidation by leukocytes in vitro. The results suggest a mutation of methylmalonyl-CoA isomerase, a vitamin B(12), dependent enzyme which converts methylmalonyl-CoA to succinyl-CoA, and provide the first demonstration of vitamin B(12) "dependency" in man.

Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Coenzyme A; Humans; Hydro-Lyases; Infant; Isomerases; Leukocytes; Malonates; Metabolism, Inborn Errors; Molecular Biology; Mutation; Propionates; Pyridoxal Phosphate; Succinates; Vitamin B 12; Xanthurenates