vitamin-b-12 and Metabolic-Diseases

Inappropriate food behavior contributes to obesity and leads to vitamin deficiency. This review discusses the nutritional status of water- and fat-soluble vitamins in obese subjects. We verified that most vitamins are deficient in obese individuals, especially the fat-soluble vitamins, folic acid, vitamin B

Topics: Avitaminosis; Comorbidity; Folic Acid; Humans; Metabolic Diseases; Nutritional Status; Obesity; Vitamin A; Vitamin B 12; Vitamins

Methylmalonic acidemia and intracellular cobalamin metabolism disorders represent a heterogeneous group of inborn errors of metabolism. Most patients will require diagnostic and/or therapeutic procedures frequently requiring sedation or anesthetic management due to neurological and neurocognitive impairments. It has been stated that propofol is contraindicated in this population. We report our experience with propofol administration in a large series of patients.. Twenty eight patients (14 mut, seven cblC, three cblA, three cblB, one cblG) aged 2-35.6 years enrolled in a natural history study (ClinicalTrials.gov identifier: NCT00078078) and required anesthetics for 39 diagnostic or therapeutic procedures. Data were collected on the anesthetic technique, perianesthetic course, and adverse events related to propofol.. Propofol was used as the sole induction agent in most cases (36/39) and as the primary maintenance agent in all cases. Infusion rates were 100-400 mcg kg(-1) min(-1) (mean = 214). Infusion duration was 60-325 min (mean = 158) and total doses ranged between 270-3610 mg (mean = 1217). Adverse events were recorded in two cases; neither appeared to be related to propofol administration.. Propofol is an effective, safe induction and maintenance agent for elective short procedures requiring anesthesia in patients with MMA and cobalamin metabolism disorders. Despite multiple comorbidities and propensity toward instability, those affected can receive anesthesia with an acceptable safety profile, if metabolically and hemodynamically stabilized prior to the event.. A review of the perianesthetic records of 28 patients with isolated MMA and intracellular cobalamin metabolism disorders suggests that propofol anesthesia can be administered safely to these patients, in the setting of metabolic stability.

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Intracellular Space; Male; Metabolic Diseases; Models, Theoretical; Propofol; Retrospective Studies; Vitamin B 12; Young Adult

Hypervitaminemia B12 or high serum level of cobalamin B12 is a frequent and clinical underestimated abnormality. Clinically, it can be sometimes paradoxically accompanied by signs of deficiency reflecting a functional deficit in relation to qualitative abnormalities related to defects in tissue uptake and action of vitamin B12. Etiological profile of hypervitaminemias B12 has mostly serious disease entities and for which early diagnosis is crucial to the plan rather than prognostic. These entities are represented mainly by solid malignancies, hematological malignancies and liver diseases. This reflects the potential significance that may have the dosage of vitamin B12 as an early marker of diagnosis of these diseases. Codified approach is needed to determine the potential indications of the search for a hypervitaminemia B12 and practice what to do to pass before the discovery of a high serum level of cobalamin.

Topics: Hematologic Diseases; Humans; Liver Diseases; Metabolic Diseases; Models, Biological; Neoplasms; Professional Practice; Prognosis; Up-Regulation; Vitamin B 12

Although often felt to be relatively innocuous, nitrous oxide can have significant metabolic effects in settings of abnormal vitamin B12 and B12-related metabolism in children. These conditions can be genetic or environmental. Symptoms may not appear until days to weeks after exposure to nitrous oxide. Although overt genetic diseases are relatively uncommon, the implications of nitrous oxide interactions with much more frequent but less symptomatically obvious single nucleotide polymorphisms are potentially more concerning. In addition, nitrous oxide can have direct and differing neurotoxic effects on both immature and aged brain, the clinical impact of which remains undetermined.

Topics: Anesthetics, Inhalation; Brain; Child; Humans; Metabolic Diseases; Nitrous Oxide; Polymorphism, Single Nucleotide; Vitamin B 12

There are many reasons for reviewing the neurology of vitamin-B12 and folic-acid deficiencies together, including the intimate relation between the metabolism of the two vitamins, their morphologically indistinguishable megaloblastic anaemias, and their overlapping neuropsychiatric syndromes and neuropathology, including their related inborn errors of metabolism. Folates and vitamin B12 have fundamental roles in CNS function at all ages, especially the methionine-synthase mediated conversion of homocysteine to methionine, which is essential for nucleotide synthesis and genomic and non-genomic methylation. Folic acid and vitamin B12 may have roles in the prevention of disorders of CNS development, mood disorders, and dementias, including Alzheimer's disease and vascular dementia in elderly people.

Topics: Animals; Folic Acid; Humans; Metabolic Diseases; Models, Biological; Multiple Sclerosis; Nervous System; Vitamin B 12; Vitamin B 12 Deficiency

Surgical procedures that lower portal pressure, such as portacaval shunts, prevent variceal hemorrhage. Portal hypertension is the result of increased flow and increased resistance in the portal system. Pharmacologic therapy is aimed at altering these factors by the use of vasoconstrictors to reduce flow and vasodilators to decrease resistance. The current status of pharmacologic agents to achieve these effects is reviewed.

Topics: Anemia, Pernicious; Autoimmune Diseases; Cell Membrane Permeability; Gastric Mucosa; Humans; Ileum; Intestinal Absorption; Intestinal Mucosa; Intrinsic Factor; Metabolic Diseases; Transcobalamins; Vitamin B 12; Zollinger-Ellison Syndrome

Topics: Age Factors; Diet; Female; Folic Acid; Folic Acid Deficiency; Gastrointestinal Diseases; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Metabolic Diseases; Metabolism, Inborn Errors; Nutrition Disorders; Nutritional Physiological Phenomena; Nutritional Requirements; Pregnancy; Time Factors; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Bacteroides; Bile Acids and Salts; Biliary Tract Diseases; Blind Loop Syndrome; Celiac Disease; Cholestyramine Resin; Diagnosis, Differential; Digestion; Escherichia coli; Fatty Acids; Humans; Ileum; Intestinal Diseases; Intestinal Obstruction; Intrinsic Factor; Lipid Metabolism; Liver Circulation; Malabsorption Syndromes; Metabolic Diseases; Triglycerides; Vitamin B 12

Topics: Amino Acids; Animals; Brain; Coenzymes; Homocysteine; Homocystine; Humans; Infant; Male; Malonates; Metabolic Diseases; Methionine; Rats; Vitamin B 12

Methylmalonic aciduria (MMA) is a common one of the congenital disorders of organic acids metabolism. Some of the patients with the disorder are complicated with homocysteinemia. Recently, gas chromatography-mass spectrometry (GCMS) has been used to diagnose MMA in China. However, the diagnosis of the patients with combined MMA and homocysteinemia is often delayed. In this study, the natural history, clinical features and outcome of 57 Chinese patients with combined MMA and homocysteinemia were investigated.. From 1996 to 2006, 96 MMA patients from 16 provinces or cities were diagnosed in our hospital by urine organic acids analysis using GCMS. Homocysteinemia was found by serum and urine total homocysteine determination using a fluorescence polarization immunoassay.. Fifty-seven of the 96 MMA patients (59.4%, 32 males and 25 females) were found to have combined MMA and homocysteinemia. They had markedly increased urine methylmalonic acid, total serum homocysteine (81.5 to 226.5 micromol/L vs. normal range 4.5 to 12.4 micromol/L) and urine homocysteine (79.1 to 414.5 micromol/L vs. normal range 1.0 to 25.0 micromol/L). Thirteen (22.8%) of them presented with symptoms resembled hypoxic-ischemic encephalopathy in the neonatal period. Fourteen (24.6%) patients had the onset at the age of one month to 1 year with mental retardation, vomiting and epilepsy. Nine (15.8%) showed developmental delay, seizures, poor appetite or anemia from the age of 1 to 3 years. Eighteen (31.6%) had psycho-motor degeneration at the age of 6 to 15 years. Among them, 7 patients experienced multiple organ dysfunctions with liver dysfunction, hematuria, renal failure and peripheral neuropathy. Three (5.3%) patients developed progressive mental degeneration, motor disorders and anorexia at the ages of 16, 24 and 34 years. Eleven (19.3%) patients ultimately died; 5 (8.8%) of them were diagnosed postmortem. Forty-six (80.7%) patients were treated with vitamin B12, folic acid, L-carnitine and betaine supplementation and 11 (19.3%) of them recovered completely.. Combined MMA with homocysteinemia is a common form of MMA in China. The clinical spectrum of the patients varies from severe neonatal-onset forms with high mortality to milder forms with adult-onset. Serum or urine total homocysteine analysis is important for the deferential diagnosis of the patients with MMA.

Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Anemia; Carnitine; Child; Child, Preschool; China; Female; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Metabolic Diseases; Methylmalonic Acid; Urologic Diseases; Vitamin B 12; Vitamin B Complex; Young Adult

Increased circulating total homocysteine (tHcy) has been implicated as an independent risk factor for atherosclerotic disease. In cardiac transplant patients, accelerated coronary atherosclerosis is an important cause of late allograft failure; however, studies of tHcy in this at-risk group are limited. We sampled a cohort of 72 subjects 3.95+/-3.14 (mean +/- SD) years after transplantation and found that all had tHcy concentrations above our upper reference limit (15.0 micromol/L). The mean tHcy in the transplant group (25.4+/-7.1 micromol/L) was significantly greater than in our reference group (9.0+/-4.3 micromol/L; n = 457; P <0.001). We also examined the effect of age, gender, time since transplant, serum folate and cobalamin, total protein, urate, creatinine, albumin, and trough whole blood cyclosporine concentrations. In a multiple linear regression model, only creatinine (mean 144+/-52 micromol/L; P = 0.021) and trough cyclosporine concentrations (191+/-163 microg/L; P = 0.015) were independent positive predictors of tHcy, whereas serum folate (8.35+/-7.43 nmol/L; P = 0.018) and time since transplant (P = 0.049) were significant negative predictors. We conclude that hyperhomocysteinemia is a common characteristic of cardiac transplant recipients. Our analysis suggests that folate and renal glomerular dysfunction are important contributory factors; however, whole blood cyclosporine concentrations may also predict the degree of hyperhomocysteinemia in this population and therefore influence interpretation of any apparent response to treatment.

Topics: Adult; Aged; Cyclosporine; Female; Folic Acid; Heart Transplantation; Homocysteine; Humans; Immunosuppressive Agents; Kidney Glomerulus; Linear Models; Male; Metabolic Diseases; Methionine; Middle Aged; Postoperative Complications; Vitamin B 12

Topics: Amino Acid Metabolism, Inborn Errors; Hematoma, Subdural; Humans; Metabolic Diseases; Status Epilepticus; Vitamin B 12; Vitamin B 12 Deficiency

The molecular mechanisms that underlie the neurological manifestations of patients with inherited diseases of vitamin B12 (cobalamin) metabolism remain to date obscure. We observed transcriptomic changes of genes involved in RNA metabolism and endoplasmic reticulum stress in a neuronal cell model with impaired cobalamin metabolism. These changes were related to the subcellular mislocalization of several RNA binding proteins, including the ELAVL1/HuR protein implicated in neuronal stress, in this cell model and in patient fibroblasts with inborn errors of cobalamin metabolism and Cd320 knockout mice. The decreased interaction of ELAVL1/HuR with the CRM1/exportin protein of the nuclear pore complex and its subsequent mislocalization resulted from hypomethylation at R-217 produced by decreased S-adenosylmethionine and protein methyl transferase CARM1 and dephosphorylation at S221 by increased protein phosphatase PP2A. The mislocalization of ELAVL1/HuR triggered the decreased expression of SIRT1 deacetylase and genes involved in brain development, neuroplasticity, myelin formation, and brain aging. The mislocalization was reversible upon treatment with siPpp2ca, cobalamin, S-adenosylmethionine, or PP2A inhibitor okadaic acid. In conclusion, our data highlight the key role of the disruption of ELAVL1/HuR nuclear export, with genomic changes consistent with the effects of inborn errors of Cbl metabolisms on brain development, neuroplasticity and myelin formation.

Topics: Animals; Biological Transport; Brain; CARD Signaling Adaptor Proteins; Cell Line, Tumor; Cell Nucleus; ELAV-Like Protein 1; Endoplasmic Reticulum Stress; Exportin 1 Protein; Humans; Karyopherins; Metabolic Diseases; Methylation; Mice; Mice, Inbred C57BL; Mice, Knockout; Okadaic Acid; Phosphorylation; Protein Phosphatase 2; Receptors, Cytoplasmic and Nuclear; RNA-Binding Proteins; RNA, Messenger; S-Adenosylmethionine; Sirtuin 1; Vitamin B 12

Topics: Adult; Hemolytic-Uremic Syndrome; Humans; Male; Metabolic Diseases; Vitamin B 12

To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation.. Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO).. Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group (363 days, p < 0.001], but not compared to the EO group. Of all OAD patients 71 % remained asymptomatic until day 8. Patients with cobalamin-nonresponsive MMA (MMA-Cbl(-)) and GA1 identified by NBS were less likely to have movement disorders than those diagnosed by selective screening (MMA-Cbl(-): 10 % versus 39 %, p = 0.002; GA1: 26 % versus 73 %, p < 0.001). For other OADs, the clinical benefit of NBS was less clear. Reported age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. Variable drug combinations, ranging from 12 in MMA-Cbl(-) to two in isovaleric aciduria, were used for maintenance treatment. The effects of specific metabolic treatment strategies on the health outcomes remain unclear because of the strong influences of age at onset (EO versus LO), diagnostic mode (NBS versus selective screening), and the various treatment combinations used.. NBS is an effective intervention to reduce time until diagnosis especially for LO patients and to prevent irreversible cerebral damage in GA1 and MMA-Cbl(-). Huge diversity of therapeutic interventions hampers our understanding of optimal treatment.

Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Disorders, Inborn; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Female; Glutaryl-CoA Dehydrogenase; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolic Diseases; Methylmalonic Acid; Middle Aged; Neonatal Screening; Vitamin B 12; Young Adult

To explore whether maternal vitamin B12 and folate status during early pregnancy are associated with cardiometabolic risk factors in the offspring at age 5-6.. Prospective multi-ethnic birth cohort, the Amsterdam Born Children and their Development study (ABCD).. 12,373 pregnant women living in Amsterdam were approached between 2003 and 2004 for participation in the study.. Mother-child pairs for whom information on maternal vitamin B12 or folate status in early gestation and health at age 5-6 years was available (n = 1950).. Vitamin B12 and folate concentrations were determined in maternal serum at intake in early pregnancy (median 13 weeks' gestation). Anthropometric measurements, blood pressure and fasting blood samples were collected during a health check of children aged 5-6 years. Multiple linear regression was performed to investigate the association between maternal serum concentrations and children's outcomes, corrected for confounders.. Gestational age at birth, birthweight, body mass index (BMI), glucose levels, triglyceride levels, blood pressure and heart rate of the offspring at age 5-6.. Low maternal folate levels during early pregnancy were associated with slightly higher BMI in the offspring [decrease per 10 units: β 0.07 kg/m(2), 95% confidence interval (CI) 0.01, 0.13]. Low maternal vitamin B12 concentrations were associated with higher heart rates (decrease per 100 units: β 0.49 beats/min, 95% CI 0.11, 0.87).. This study provides further evidence that maternal nutrition in early pregnancy may possibly program cardiometabolic health of the offspring.. Low folate and vitamin B12 levels during pregnancy are associated with higher BMI and heart rate in offspring.

Topics: Adult; Child; Child, Preschool; Ethnicity; Female; Folic Acid; Folic Acid Deficiency; Heart Diseases; Humans; Male; Metabolic Diseases; Pregnancy; Pregnancy Complications; Prospective Studies; Risk Factors; Vitamin B 12; Vitamin B 12 Deficiency

Previous reports have linked maternal prepregnancy obesity with low folate concentrations and child overweight or obesity (OWO) in separate studies. To our knowledge, the role of maternal folate concentrations, alone or in combination with maternal OWO, in child metabolic health has not been examined in a prospective birth cohort.. To test the hypotheses that maternal folate concentrations can significantly affect child metabolic health and that sufficient maternal folate concentrations can mitigate prepregnancy obesity-induced child metabolic risk.. This prospective birth cohort study was conducted at the Boston Medical Center, Boston, Massachusetts. It included 1517 mother-child dyads recruited at birth from 1998 to 2012 and followed up prospectively up to 9 years from 2003 to 2014.. Child body mass index z score calculated according to US reference data, OWO defined as a body mass index in the 85th percentile or greater for age and sex, and metabolic biomarkers (leptin, insulin, and adiponectin).. The mean (SD) age was 28.6 (6.5) years for mothers and 6.2 (2.4) years for the children. An L-shaped association between maternal folate concentrations and child OWO was observed: the risk for OWO was higher among those in the lowest quartile (Q1) as compared with those in Q2 through Q4, with an odds ratio of 1.45 (95% CI, 1.13-1.87). The highest risk for child OWO was found among children of obese mothers with low folate concentrations (odds ratio, 3.05; 95% CI, 1.91-4.86) compared with children of normal-weight mothers with folate concentrations in Q2 through Q4 after accounting for multiple covariables. Among children of obese mothers, their risk for OWO was associated with a 43% reduction (odds ratio, 0.57; 95% CI, 0.34-0.95) if their mothers had folate concentrations in Q2 through Q4 compared with Q1. Similar patterns were observed for child metabolic biomarkers.. In this urban low-income prospective birth cohort, we demonstrated an L-shaped association between maternal plasma folate concentrations and child OWO and the benefit of sufficient folate concentrations, especially among obese mothers. The threshold concentration identified in this study exceeded the clinical definition of folate deficiency, which was primarily based on the hematological effect of folate. Our findings underscore the need to establish optimal rather than minimal folate concentrations for preventing adverse metabolic outcomes in the offspring.

Topics: Adult; Biomarkers; Body Mass Index; Boston; Child; Child, Preschool; Female; Folic Acid; Humans; Insulin; Leptin; Male; Metabolic Diseases; Obesity; Overweight; Pediatric Obesity; Preconception Care; Pregnancy; Pregnancy Complications; Prenatal Exposure Delayed Effects; Prospective Studies; Vitamin B 12

Falls and fractures constitute a major cause of morbidity and mortality among older adults. Although falls and fractures share similar risk factors, there is no integrated approach to identifying secondary causes of both entities. We report a cost-effective approach to identify metabolic causes of falls and fractures in the clinical setting.. Falls and fractures are a major cause of morbidity and mortality among older adults. Metabolic disorders contributing to the combined risk of falls and fractures are frequent but often go undetected. The most efficient and cost-effective laboratory screening strategy to unmask these disorders remains unknown. The purpose of this study was to identify the most cost-effective laboratory tests to detect undiagnosed metabolic contributors and to decide treatment of these disorders in older persons.. This is a cross-sectional study design, which included all participants attending the Falls & Fractures Clinic, Nepean Hospital (Penrith, Australia) between 2008 and 2013. Chemistry profile included 25(OH) vitamin D, parathyroid hormone (PTH), albumin, creatinine, calcium, phosphate, vitamin B-12, folate, and thyroid-stimulating hormone (TSH) for all patients, and serum testosterone in men. The number of new diagnoses identified and their cost-effectiveness (cost in US$ per patient screened and cost per new diagnosis) were calculated.. A total of 739 participants (mean age 79, 71 % female) were assessed. Among 233 participants with complete laboratory tests, previously undiagnosed disorders were identified in 148 (63.5 %). Vitamin D deficiency (27 %) and hyperparathyroidism (21.5 %) were the most frequent diagnoses. A testing strategy including serum vitamin D, calcium, PTH, creatinine/estimated glomerular filtration rate (eGFR), and TSH for all patients and serum testosterone in men would have been sufficient to identify secondary causes of falls and fractures in 94 % of patients at an estimated cost of $190.19 per patient screened and $257.64 per diagnosis.. The minimum cost-effective battery for occult metabolic disorders in older adults at risk of falls and fractures should include serum vitamin D, PTH, TSH, creatinine/eGFR, testosterone (in men), and calcium.

Topics: Accidental Falls; Aged; Aged, 80 and over; Australia; Blood Chemical Analysis; Calcium; Cost-Benefit Analysis; Creatinine; Cross-Sectional Studies; Female; Folic Acid; Fractures, Bone; Humans; Hyperparathyroidism; Male; Metabolic Diseases; Middle Aged; Parathyroid Hormone; Phosphates; Risk Factors; Serum Albumin; Testosterone; Thyrotropin; Vitamin B 12; Vitamin D; Vitamin D Deficiency

Topics: Aged; Autoimmune Diseases; Female; France; Hematologic Diseases; Humans; Liver Diseases; Male; Metabolic Diseases; Neoplasms; Prevalence; Prognosis; Renal Insufficiency; Statistics as Topic; Vitamin B 12

Conversion of vitamin B12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for the function of two crucial enzymes, mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase, respectively. The intracellular proteins MMACHC and MMADHC play important roles in processing and targeting the Cbl cofactor to its destination enzymes, and recent evidence suggests that they may interact while performing these essential trafficking functions. To better understand the molecular basis of this interaction, we have mapped the crucial protein regions required, indicate that Cbl is likely processed by MMACHC prior to interaction with MMADHC, and identify patient mutations on both proteins that interfere with complex formation, via different mechanisms. We further report the crystal structure of the MMADHC C-terminal region at 2.2 Å resolution, revealing a modified nitroreductase fold with surprising homology to MMACHC despite their poor sequence conservation. Because MMADHC demonstrates no known enzymatic activity, we propose it as the first protein known to repurpose the nitroreductase fold solely for protein-protein interaction. Using small angle x-ray scattering, we reveal the MMACHC-MMADHC complex as a 1:1 heterodimer and provide a structural model of this interaction, where the interaction region overlaps with the MMACHC-Cbl binding site. Together, our findings provide novel structural evidence and mechanistic insight into an essential biological process, whereby an intracellular "trafficking chaperone" highly specific for a trace element cofactor functions via protein-protein interaction, which is disrupted by inherited disease mutations.

Topics: Amino Acid Sequence; Animals; Binding Sites; Carrier Proteins; Crystallography, X-Ray; Humans; Intracellular Signaling Peptides and Proteins; Metabolic Diseases; Mice; Mitochondrial Membrane Transport Proteins; Molecular Chaperones; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Nitroreductases; Oxidoreductases; Phenotype; Protein Binding; Protein Interaction Mapping; Protein Multimerization; Protein Structure, Secondary; Protein Transport; Recombinant Proteins; Sequence Homology, Amino Acid; Vitamin B 12

Topics: Congresses as Topic; Dietary Supplements; Homocysteine; Humans; Hyperhomocysteinemia; Metabolic Diseases; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Vitamin B 12

To analyze the effect of antiretroviral therapy on homocysteine levels in HIV-1-infected patients.. Observational, prospective study of patients with AIDS.. We included patients with HIV-1 infection naive for antiretroviral drugs. Before and after 6 months of treatment, we evaluated fasting and postoral methionine load plasma homocysteine, serum vitamins B6 and B12, and intraerythrocyte folate levels.. We studied 69 patients who began therapy for a 6-month period. Fasting and postoral methionine load plasma homocysteine levels increased significantly after 6 months of antiretroviral therapy with respect to basal values (P < 0.001). Fasting hyperhomocysteinemia was present in 7.3% of patients before treatment and in 89.9% after 6 months of therapy (P = 0.0001). Postoral methionine load hyperhomocysteinemia was found in 4.5% of subjects before therapy vs. 98.5% at the end of study period (P = 0.001). These results were not associated with folate or vitamins B6 or B12 levels.. In patients with HIV-1 infection, fasting and postoral methionine load plasma homocysteine levels increased after 6 months of antiretroviral treatment. Nutritional abnormalities were not responsible for hyperhomocysteinemia, suggesting that enzymatic disturbances in the metabolic pathways of homocysteine may occur.

Topics: Adult; Aged; Anti-HIV Agents; Antiretroviral Therapy, Highly Active; Erythrocytes; Female; Folic Acid; HIV Infections; HIV-1; Homocysteine; Humans; Male; Metabolic Diseases; Middle Aged; Plasma; Prospective Studies; Vitamin B 12; Vitamin B 6

Topics: Anemia; Ceruloplasmin; Copper; Female; Follow-Up Studies; Hematologic Diseases; Humans; Magnetic Resonance Imaging; Metabolic Diseases; Middle Aged; Nervous System Diseases; Neural Conduction; Neutropenia; Peripheral Nerves; Spinal Cord; Vitamin B 12; Zinc

Topics: Antibodies; Humans; Immunoglobulin A; Male; Metabolic Diseases; Middle Aged; Transcobalamins; Vitamin B 12

Macrocytic megaloblastic anemia is the most typical but the latest sign of a cobalamin (vitamin B12) and/or folic acid deficiency or of a congenital abnormality of cobalamin and folate metabolism. Macrocytosis in blood and megaloblastosis in bone marrow are the morphological features of a disturbance in cell division related to a defect in DNA biosynthesis. Macrocytosis without anemia, normocytic normochronic anemia with a low reticulocyte cell count or microcytic hypochromic anemia in case of associated iron deficiency do not exclude a vitamin deficiency. Neurological or psychiatric disorders and immune abnormalities have been reported in patients with vitamin B12 or folate deficiencies or in children with congenital abnormalities of these 2 vitamins; such manifestations may even occur without anemia.

Topics: Anemia, Megaloblastic; Diagnosis, Differential; Folic Acid; Humans; Metabolic Diseases; Transcobalamins; Vitamin B 12

The pathophysiology of various metabolic and other medical disorders that may complicate Crohn's disease is outlined. Measures that may help to prevent or mitigate these complications are discussed.

Topics: Bile Acids and Salts; Crohn Disease; Humans; Intestinal Absorption; Iron Deficiencies; Kidney Calculi; Metabolic Diseases; Oxalates; Vitamin B 12; Zinc

New tests and test methods aid in the diagnosis of pancreatic disorders. Pancreatic carcinoma, especially, may have an improved prognosis with earlier detection as a result of refinements in arteriography, cytology, pancreatic radioisotopic scanning, and endoscopic retrograde cholangiopancreatography. Acute pancreatitis results most commonly from alcoholism, biliary tract disease, and trauma. Management is directed primarily at decreasing pancreatic exocrine secretion. Surgery is usually best avoided in the acute phase. Chronic pancreatitis is most often a result of recurrent attacks of acute pancreatitis. Diabetes and malassimilation become manifest as pancreatic destruction progresses. Management consists of replacement of pancreatic enzymes and diet supplements. Once chronic pancreatitis is established, surgery can only be directed at complications of the disease. Pancreatic ascites is usually associated with a break in the pancreatic ductal system. Ascites caused by trauma responds well to surgical intervention, but the alcoholic type is less amenable to treatment.

Topics: Acute Disease; Alcoholism; Antacids; Ascites; Carcinoembryonic Antigen; Cholangiography; Chronic Disease; Cysts; Diabetes Mellitus; Diet Therapy; Endoscopy; Gastrointestinal Hemorrhage; Humans; Metabolic Diseases; Methionine; Pancreatic Diseases; Pancreatic Juice; Pancreatic Neoplasms; Pancreatin; Pancreatitis; Prognosis; Selenium; Ultrasonics; Vitamin B 12

A mixture of isomers of methylhexadecanoic acid was isolated from glycerolipids of brain, spinal cord, and sciatic nerve of a patient who died from methylmalonic aciduria, a disease in which vitamin B(12) is not converted to deoxyadenosyl B(12). The isomers were identified by gas-liquid chromatographic-mass spectrometric analyses, and the data indicated that the points of methyl branching are located predominantly on the even-numbered carbon atoms. The concentration of these branched-chain acids among the glycerolipid fatty acids in the patient's nervous system was at least 0.3-0.9%, while the control tissues contained no more than a trace amount, if any, of these acids. In the spinal cord, these branched acids were distributed among all phosphatides and were in highest concentration on the beta position of phosphatidylcholine. On the other hand, most extraneural tissues contained these acids in much lower concentrations; there were only trace amounts in liver, kidney, muscle, and skin, and 0.2, 0.2, and 0.5% in total ester-linked fatty acids in spleen, duodenum, and lung, respectively. A second abnormality was the 6-13-fold increase in 15:0 and 17:0 fatty acids in all of the glycerolipids in the nervous system of the patient. This abnormality was also observed to a somewhat smaller extent in every extraneural tissue examined. The C(17) aldehydes of phosphatidylethanolamine plasmalogens from the spinal cord of the patient were identified by converting them to the corresponding dimethylacetals. 17:0 dimethylacetal accounted for nearly 10% of total dimethylacetals. There were no abnormalities in total lipids, cholesterol, cerebrosides, and sphingomyelins.

Topics: Acids; Aldehydes; Brain Chemistry; Chromatography, Gas; Esters; Fatty Acids; Humans; Malonates; Metabolic Diseases; Phospholipids; Propionates; Sciatic Nerve; Spinal Cord; Vitamin B 12

Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Metabolic Diseases; Methionine; Methyltransferases; Pyridoxine; Tetrahydrofolates; Transferases; Vitamin B 12

Topics: Adolescent; Adult; Amino Acids; Child; Drug Synergism; Female; Folic Acid; Folic Acid Deficiency; Glycine; Homocysteine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Metabolic Diseases; Methionine; Methylation; Pyridoxine; Vitamin B 12

Topics: Adult; Amblyopia; Animals; Biological Transport; Cystinuria; Dipeptides; Female; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Nitrogen; Peptides; Proteins; Smoking; Tyrosine; Vitamin B 12

Topics: Animals; Female; Hepatolenticular Degeneration; Humans; Iron Isotopes; Metabolic Diseases; Middle Aged; Radiation Injuries; Radiation Monitoring; Rats; Sodium Isotopes; Vitamin B 12

Topics: Anabolic Agents; Humans; Metabolic Diseases; Methyltestosterone; Psoriasis; Vitamin B 12

Topics: Anemia, Pernicious; Cobalt Isotopes; Humans; Metabolic Diseases; Radiometry; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Pernicious; Child; Child, Preschool; Female; Humans; Infant; Male; Metabolic Diseases; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Biopsy; Chlortetracycline; Cobalt Isotopes; Gastric Juice; Hematinics; Humans; Intrinsic Factor; Jejunum; Metabolic Diseases; Metabolism; Pathology; Vitamin B 12

Topics: Anemia; Anemia, Macrocytic; Anticonvulsants; Celiac Disease; Female; FIGLU Test; Folic Acid; Folic Acid Antagonists; Folic Acid Deficiency; Formiminoglutamic Acid; Histidine; Humans; Intestinal Diseases; Intestine, Small; Intestines; Liver Diseases; Metabolic Diseases; Neoplasms; Postoperative Complications; Pregnancy; Sprue, Tropical; Vitamin B 12

Topics: Avitaminosis; Coenzyme A; Coenzymes; Flavin Mononucleotide; Flavin-Adenine Dinucleotide; Humans; Metabolic Diseases; NAD; NADP; Thiamine Pyrophosphate; Vitamin B 12

Topics: Diabetes Mellitus; Female; Fetus; Folic Acid; Hematinics; Humans; Hypothyroidism; Liver Diseases; Metabolic Diseases; Pregnancy; Vitamin B 12; Vitamin B Complex; Vitamins

Topics: Humans; Liver Diseases; Metabolic Diseases; Vitamin B 12

Topics: Humans; Liver Diseases; Metabolic Diseases; Vitamin B 12

Topics: Humans; Liver Diseases; Metabolic Diseases; Vitamin B 12