keyword
MENU ▼
Read by QxMD icon Read
search

5 MTHF deficiency

keyword
https://www.readbyqxmd.com/read/27523499/neurometabolic-disorders-potentially-treatable-abnormalities-in-patients-with-treatment-refractory-depression-and-suicidal-behavior
#1
Lisa A Pan, Petra Martin, Thomas Zimmer, Anna Maria Segreti, Sivan Kassiff, Brian W McKain, Cynthia A Baca, Manivel Rengasamy, Keith Hyland, Nicolette Walano, Robert Steinfeld, Marion Hughes, Steven K Dobrowolski, Michele Pasquino, Rasim Diler, James Perel, David N Finegold, David G Peters, Robert K Naviaux, David A Brent, Jerry Vockley
OBJECTIVE: Treatment-refractory depression is a devastating condition with significant morbidity, mortality, and societal cost. At least 15% of cases of major depressive disorder remain refractory to treatment. The authors previously identified a young adult with treatment-refractory depression and multiple suicide attempts with an associated severe deficiency of CSF tetrahydrobiopterin, a critical cofactor for monoamine neurotransmitter synthesis. Treatment with sapropterin, a tetrahydrobiopterin analogue, led to dramatic and long-lasting remission of depression...
August 13, 2016: American Journal of Psychiatry
https://www.readbyqxmd.com/read/27178705/csf-concentrations-of-5-methyltetrahydrofolate-in-a-cohort-of-young-children-with-autism
#2
John Shoffner, Barbara Trommer, Audrey Thurm, Cristan Farmer, William A Langley, Laura Soskey, Aldeboran N Rodriguez, Precilla D'Souza, Sarah J Spence, Keith Hyland, Susan E Swedo
OBJECTIVE: To examine the association between cerebral folate deficiency and autism, this study examined CSF 5-methyltetrahydrofolate (5-MTHF) concentrations in a group of young children with autism, investigated the natural variation in CSF 5-MTHF over time, and assessed the relationship between CSF 5-MTHF and symptoms. METHODS: CSF was collected from 67 children with a diagnosis of DSM-IV-TR autistic disorder (age, mean ± SD 43 ± 11 months), with a second CSF sample obtained 1-3 years later on 31 of these subjects (time to follow-up, 30 ± 8 months)...
June 14, 2016: Neurology
https://www.readbyqxmd.com/read/27068282/the-basis-for-folinic-acid-treatment-in-neuro-psychiatric-disorders
#3
REVIEW
V T Ramaekers, J M Sequeira, E V Quadros
Multiple factors such as genetic and extraneous causes (drugs, toxins, adverse psychological events) contribute to neuro-psychiatric conditions. In a subgroup of these disorders, systemic folate deficiency has been associated with macrocytic anemia and neuropsychiatric phenotypes. In some of these, despite normal systemic levels, folate transport to the brain is impaired in the so-called cerebral folate deficiency (CFD) syndromes presenting as developmental and psychiatric disorders. These include infantile-onset CFD syndrome, infantile autism with or without neurologic deficits, a spastic-ataxic syndrome and intractable epilepsy in young children expanding to refractory schizophrenia in adolescents, and finally treatment-resistant major depression in adults...
July 2016: Biochimie
https://www.readbyqxmd.com/read/26898294/treatment-with-mefolinate-5-methyltetrahydrofolate-but-not-folic-acid-or-folinic-acid-leads-to-measurable-5-methyltetrahydrofolate-in-cerebrospinal-fluid-in-methylenetetrahydrofolate-reductase-deficiency
#4
L Knowles, A A M Morris, J H Walter
S-adenosyl methionine, which is formed from methionine, is an essential methyl donor within the central nervous system. Methionine is formed by the enzyme methionine synthase for which 5-methyltetrahydrofolate (5-MTHF) and homocysteine are substrates. Patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency cannot make 5-MTHF and have extremely low levels in the CSF. As a consequence, methylation reactions in the CNS are compromised, and this is likely to play an important role in the neurological abnormalities that occur in MTHFR deficiency...
February 23, 2016: JIMD Reports
https://www.readbyqxmd.com/read/26821044/impact-of-food-rations-and-supplements-on-micronutrient-status-by-trimester-of-pregnancy-cross-sectional-studies-in-the-maela-refugee-camp-in-thailand
#5
Wolfgang Stuetz, Verena I Carrara, Rose Mc Gready, Sue J Lee, Kanlaya Sriprawat, Basi Po, Borimas Hanboonkunupakarn, Tilman Grune, Hans K Biesalski, François H Nosten
Micronutrient fortified flour (MFF), supplementary food rations and micronutrient (MN) supplements may prevent deficiencies among pregnant women. Objectives of cross-sectional surveys in 2004 (n = 533) and 2006 (n = 515) were to assess the impact of new food rations (flour, oil) and supplements on MN status by trimester of pregnancy in the Maela refugee camp. Hemoglobin, iron status, zinc, retinol, β-carotene and tryptophan decreased, while α-/γ-tocopherol and 5-methyltetrahydrofolate (5-MTHF) increased from first to third trimester...
January 26, 2016: Nutrients
https://www.readbyqxmd.com/read/25274592/diagnosis-and-management-of-cerebral-folate-deficiency-a-form-of-folinic-acid-responsive-seizures
#6
Raidah S Al-Baradie, Mohammed W Chaudhary
Folinic acid-responsive seizures (FARS) are a rare treatable cause of neonatal epilepsy. They have characteristic peaks on CSF monoamine metabolite analysis, and have mutations in the ALDH7A1 gene, characteristically found in pyridoxine-dependent epilepsy. There are case reports of patients presenting with seizures at a later age, and with folate deficiency due to different mechanisms with variable response to folinic acid supplementation. Here, we report 2 siblings who presented with global developmental delay and intractable seizures who responded clinically to folinic acid therapy...
October 2014: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/24527038/plasma-and-red-cell-reference-intervals-of-5-methyltetrahydrofolate-of-healthy-adults-in-whom-biochemical-functional-deficiencies-of-folate-and-vitamin-b-12-had-been-excluded
#7
Agata Sobczyńska-Malefora, Dominic J Harrington, Kieran Voong, Martin J Shearer
5-Methyltetrahydrofolate (5-MTHF) is the predominant form of folate and a strong determinant of homocysteine concentrations. There is evidence that suboptimal 5-MTHF availability is a risk factor for cardiovascular disease independent of homocysteine. The analysis of folates remains challenging and is almost exclusively limited to the reporting of "total" folate rather than individual molecular forms. The purpose of this study was to establish the reference intervals of 5-MTHF in plasma and red cells of healthy adults who had been prescreened to exclude biochemical evidence of functional deficiency of folate and/or vitamin B12...
2014: Advances in Hematology
https://www.readbyqxmd.com/read/24494987/folate-folic-acid-and-5-methyltetrahydrofolate-are-not-the-same-thing
#8
REVIEW
Francesco Scaglione, Giscardo Panzavolta
1. Folate, an essential micronutrient, is a critical cofactor in one-carbon metabolism. Mammals cannot synthesize folate and depend on supplementation to maintain normal levels. Low folate status may be caused by low dietary intake, poor absorption of ingested folate and alteration of folate metabolism due to genetic defects or drug interactions. 2. Folate deficiency has been linked with an increased risk of neural tube defects, cardiovascular disease, cancer and cognitive dysfunction. Most countries have established recommended intakes of folate through folic acid supplements or fortified foods...
May 2014: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/24140430/levels-of-5-methyltetrahydrofolate-and-ascorbic-acid-in-cerebrospinal-fluid-are-correlated-implications-for-the-accelerated-degradation-of-folate-by-reactive-oxygen-species
#9
Sophie-Beth Aylett, Viruna Neergheen, Iain P Hargreaves, Simon Eaton, John M Land, Shamima Rahman, Simon J R Heales
Deficiency of 5-methyltetrahydrofolate (5-MTHF) in cerebrospinal fluid (CSF) is associated with a number of neurometabolic conditions including mitochondrial electron transport chain defects. Whilst failure of the active transport of 5-methyltetrahydrofolate (5-MTHF) into the CSF compartment has been proposed as a potential mechanism responsible for the 5-MTHF deficiency seen in mitochondrial disorders, it is becoming increasingly clear that other mechanisms are involved. Here, we have considered the role of oxidative stress as a contributing mechanism...
December 2013: Neurochemistry International
https://www.readbyqxmd.com/read/24032278/-metafolin-alternative-for-folate-deficiency-supplementation-in-pregnant-women
#10
REVIEW
Agnieszka Seremak-Mrozikiewicz
Proper folate supplementation is required in order to ensure proper folate concentration in the organism, and consequently to prevent the development of numerous complications in general population and pregnant women. Metafolin (stable calcium salt of L-5-methyltetrahydrofolate acid, L-5-MTHF) is the most active form of reduced folate circulating in plasma, which directly enters the metabolic process of folate. After administration metafolin shows optimum absorption, comparable or higher bioavailability as well as physiological activity when compared to folic acid...
July 2013: Ginekologia Polska
https://www.readbyqxmd.com/read/23897582/prediagnostic-levels-of-serum-one-carbon-metabolites-and-risk-of-hepatocellular-carcinoma
#11
Lesley M Butler, Erland Arning, Renwei Wang, Teodoro Bottiglieri, Sugantha Govindarajan, Yu-Tang Gao, Jian-Min Yuan
BACKGROUND: Rats fed diets deficient in choline develop hepatocellular carcinoma. Tumor DNA from these animals is characteristically hypomethylated, suggesting that disruption of the one-carbon metabolism pathway is an underlying mechanism for hepatocarcinogenesis. Prospective studies in humans on circulating choline and other one-carbon metabolites and hepatocellular carcinoma risk have been lacking. METHODS: We prospectively examined the association between prediagnostic serum concentrations of one-carbon metabolites including betaine, choline, cystathionine, homocysteine, methionine, 5-methyltetrahydrofolate (5-MTHF), pyridoxal-5-phosphate (PLP, the bioactive form of vitamin B6) and S-adenosylmethionine (SAM), and risk of developing hepatocellular carcinoma based on a nested case-control study of 297 incident cases and 631 matched controls from a cohort of 18,244 men in Shanghai, China...
October 2013: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/23616513/wheat-rolls-fortified-with-microencapsulated-l-5-methyltetrahydrofolic-acid-or-equimolar-folic-acid-increase-blood-folate-concentrations-to-a-similar-extent-in-healthy-men-and-women
#12
RANDOMIZED CONTROLLED TRIAL
Timothy J Green, Yazheng Liu, Samira Dadgar, Wangyang Li, Ruth Böhni, David D Kitts
Mandatory folic acid fortification of grains such as wheat flour has been introduced in several countries to reduce the incidence of neural tube defects. There are concerns, however, that folic acid could mask the hematologic signs of vitamin B-12 deficiency and lead to other adverse health outcomes in the population. Calcium L-5-methyltetrahydrofolic acid (L-5-MTHF), a synthetic form of reduced folate, should not mask vitamin B-12 deficiency and may be safer than folic acid. Unfortunately, L-5-MTHF is not stable in most food matrices such as bread...
June 2013: Journal of Nutrition
https://www.readbyqxmd.com/read/23430668/association-between-low-red-blood-cell-5-methyltetrahydrofolate-and-hyperhomocysteinaemia-with-hypertension-a-cross-sectional-study
#13
Jamal Golbahar, Esmael Mostafavi
BACKGROUND: Hyperhomocysteinaemia and other risk factors associated with blood pressure have been reported in large community-based studies in different populations. However, it is not fully established whether hypertension is associated with high plasma total homocysteine levels (tHcy) or components of the homocysteine re-methylation pathway including vitamin B(12), plasma 5-methyltetrahydrofolate (5-MTHF) or red blood cell (RBC) 5-MTHF. AIM: In this study we tested the hypothesis that RBC 5-MTHF could be a marker for long-term folate status in the blood and low RBC 5-MTHF may be associated with hypertension...
December 2012: High Blood Pressure & Cardiovascular Prevention: the Official Journal of the Italian Society of Hypertension
https://www.readbyqxmd.com/read/21555636/cerebral-folate-deficiency-syndromes-in-childhood-clinical-analytical-and-etiologic-aspects
#14
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, Barbara Torrico, Bru Cormand, Mercedes Serrano, Cristina Sierra, Elisa De Grandis, Merce Pineda Marfa, Angels García-Cazorla, Jaime Campistol, Juan M Pascual, Rafael Artuch
BACKGROUND: Cerebral folate deficiency may be amenable to therapeutic supplementation. Diverse metabolic pathways and unrelated processes can lead to cerebrospinal fluid 5-methyltetrahydrofolate (5-MTHF) depletion, the hallmark of cerebral folate deficiency. OBJECTIVE: To analyze cerebral folate abundance in a large prospective series of children diagnosed with any neurologic disorder for which a diagnostic lumbar puncture was indicated. DESIGN: We studied the spectrum and frequency of disorders associated with cerebral folate deficiency by measuring cerebrospinal fluid 5-MTHF, biogenic amines, and pterins...
May 2011: Archives of Neurology
https://www.readbyqxmd.com/read/21305354/pyridoxal-5-phosphate-in-cerebrospinal-fluid-factors-affecting-concentration
#15
Emma J Footitt, Simon J Heales, Philippa B Mills, George F G Allen, Marcus Oppenheim, Peter T Clayton
Analysis of pyridoxal 5'-phosphate (PLP) concentration in 256 cerebrospinal fluid (CSF) samples from patients with neurological symptoms showed that the variance is greater than indicated by previous studies. The age-related lower reference limit has been revised to detect inborn errors of metabolism that lead to PLP depletion without a high false positive rate: < 30 days, 26 nmol/L; 30 days to 12 months, 14 nmol/L; 1-2 years, 11 nmol/L; > 3 years, 10 nmol/L. Inborn errors leading to PLP concentrations below these values include pyridoxine-dependent epilepsy due to antiquitin deficiency, and molybdenum cofactor deficiency that leads to the accumulation of sulfite, a nucleophile capable of reacting with PLP...
April 2011: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/20727555/concentrations-of-unmetabolized-folic-acid-and-primary-folate-forms-in-plasma-after-folic-acid-treatment-in-older-adults
#16
RANDOMIZED CONTROLLED TRIAL
Rima Obeid, Susanne H Kirsch, Mariz Kasoha, Rudolf Eckert, Wolfgang Herrmann
Folate deficiency can cause age-related disease. Folic acid (FA) has been used in studies aiming at disease prevention. Recently, unmetabolized FA in plasma raised public health concerns; but numerous studies used FA for disease prevention. Concentrations of the folate forms FA, 5-methyltetrahydrofolate (5-MTHF), and tetrahydrofolate (THF) were measured before and after 3-week placebo or FA 5 mg, vitamin B6 40 mg, and cyanocobalamin 2 mg per day administrated to 74 older adults (median age, 82 years). Concentrations of 5-MTHF and total homocysteine (tHcy) (r = -0...
May 2011: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/20619709/effect-of-antiepileptic-drugs-and-reactive-oxygen-species-on-folate-receptor-1-folr1-dependent-5-methyltetrahydrofolate-transport
#17
Thomas Opladen, Nenad Blau, Vincent Th Ramaekers
Metabolic breakdown of valproate (VPA), carbamazepine (CBZ) and phenytoin (PHT) by the cytochrome P450 pathway generates toxic drug intermediates and reactive oxygen species (ROS). This mechanism has been suspected to play a role in the pathogenesis of secondary cerebral folate deficiency (CFD). Using KB-cell cultures, highly expressing the folate receptor 1 (FOLR1), the effect of antiepileptic drugs (AEDs) and reactive oxygen species (ROS) on the FOLR1 dependent 5-methyltetrahydrofolate (MTHF) uptake was studied...
September 2010: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/20388557/kearns-sayre-syndrome-cerebral-folate-deficiency-mri-findings-and-new-cerebrospinal-fluid-biochemical-features
#18
Mercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, Maria del Mar O'Callaghan, Pilar Quijada, Ana Martinez-Aragón, Aida Ormazábal, Alberto Blázquez, Miguel A Martín, Paz Briones, Ester López-Gallardo, Eduardo Ruiz-Pesini, Julio Montoya, Rafael Artuch, Mercedes Pineda
We evaluated cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF), biogenic amines, and white matter status in six Kearns-Sayre syndrome (KSS) patients. They presented severe 5-MTHF deficiency. A significant negative correlation was observed between CSF 5-MTHF and protein concentration. CSF homovanillic acid was clearly high. Regarding neuroimaging, the main feature was hyperintensity in the basal ganglia, brainstem, and cerebral/cerebellar white matter. The severity of hemispheric white matter disturbances appeared to be qualitatively associated with 5-MTHF values...
August 2010: Mitochondrion
https://www.readbyqxmd.com/read/19909688/folate-in-depression-efficacy-safety-differences-in-formulations-and-clinical-issues
#19
REVIEW
Maurizio Fava, David Mischoulon
Supplementation with folate may help reduce depressive symptoms. Folate, a naturally occurring B vitamin, is needed in the brain for the synthesis of norepinephrine, serotonin, and dopamine. Three forms of folate are commonly used: folic acid, 5-methyltetrahydrofolate (5-MTHF) (also known as methylfolate and L-methylfolate), and folinic acid. Some forms may be more bioavailable than others in patients with a genetic polymorphism and in those who take particular medications or use alcohol. Folic acid augmentation in depressed patients may reduce residual symptoms...
2009: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/18950248/the-methylation-neurotransmitter-and-antioxidant-connections-between-folate-and-depression
#20
REVIEW
Alan L Miller
Depression is common - one-fourth of the U.S. population will have a depressive episode sometime in life. Folate deficiency is also relatively common in depressed people, with approximately one-third of depressed individuals having an outright deficiency. Folate is a water-soluble B-vitamin necessary for the proper biosynthesis of the monoamine neurotransmitters serotonin, epinephrine, and dopamine. The active metabolite of folate, 5-methyltetrahydrofolate (5-MTHF, L-methylfolate), participates in re-methylation of the amino acid metabolite homocysteine, creating methionine...
September 2008: Alternative Medicine Review: a Journal of Clinical Therapeutic
keyword
keyword
69677
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"