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    2030 results match your criteria Riboflavin Deficiency

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    Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
    BMC Med Genomics 2018 Apr 3;11(1):37. Epub 2018 Apr 3.
    Department of Endocrinology, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore.
    Background: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene. Whole exome sequencing (WES) with clinical correlations can be useful in identifying genomic alterations for targeted therapy. Read More

    The role of nutrients in the pathogenesis and treatment of migraine headaches: Review.
    Biomed Pharmacother 2018 Mar 20;102:317-325. Epub 2018 Mar 20.
    Nutrition Research Center, Faculty of Nutrition and Food Sciences, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:
    Objective: Migraine as a disabling neurovascular disease affects 6% of men and 18% of women worldwide. The deficiency of many nutrients including magnesium, niacin, riboflavin, cobalamin, coenzymes Q10, carnitine, α-lipoic acid and vitamin D is associated with migraine. Some researchers postulate that mitochondrial dysfunction and impaired antioxidant status can cause migraine. Read More

    Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.
    BMC Genomics 2018 03 5;19(1):177. Epub 2018 Mar 5.
    Department of Chemistry and Biochemistry, University of Delaware, Newark, DE, 19716, USA.
    Background: A strain of Leghorn chickens (rd/rd), unable to produce a functional riboflavin-binding protein, lays riboflavin-deficient eggs, in which all embryos suddenly die at mid-incubation (days 13-15). This malady, caused by riboflavin deficiency, leads to excessive lipid accumulation in liver, impaired β-oxidation of lipid, and severe hypoglycemia prior to death. We have used high-density chicken microarrays for time-course transcriptional scans of liver in chicken embryos between days 9-15 during this riboflavin-deficiency-induced metabolic catastrophe. Read More

    Riboflavin in Human Health: A Review of Current Evidences.
    Adv Food Nutr Res 2018;83:57-81. Epub 2018 Feb 2.
    School of Nutrition Sciences and Food Technology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Riboflavin is a water-soluble vitamin, which was initially isolated from milk. There are two coenzyme forms of riboflavin, flavin mononucleotide and flavin adenine dinucleotide, in which riboflavin plays important roles in the enzymatic reactions. Riboflavin is found in a wide variety of animal and plant foods. Read More

    Redox Status, Procoagulant Activity, and Metabolome of Fresh Frozen Plasma in Glucose 6-Phosphate Dehydrogenase Deficiency.
    Front Med (Lausanne) 2018 5;5:16. Epub 2018 Feb 5.
    Department of Biology, School of Science, National and Kapodistrian University of Athens, Athens, Greece.
    Objective: Transfusion of fresh frozen plasma (FFP) helps in maintaining the coagulation parameters in patients with acquired multiple coagulation factor deficiencies and severe bleeding. However, along with coagulation factors and procoagulant extracellular vesicles (EVs), numerous bioactive and probably donor-related factors (metabolites, oxidized components, etc.) are also carried to the recipient. Read More

    A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
    J Neurol Sci 2018 Jan 15;384:121-125. Epub 2017 Nov 15.
    Human Metabolomics, North-West University, Potchefstroom, South Africa.
    Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p. Read More

    FAD influx enhances neuronal differentiation of human neural stem cells by facilitating nuclear localization of LSD1.
    FEBS Open Bio 2017 Dec 17;7(12):1932-1942. Epub 2017 Oct 17.
    Molecular Neurophysiology Research GroupBiomedical Research InstituteThe National Institute of Advanced Industrial Science and Technology (AIST)TsukubaJapan.
    Flavin adenine dinucleotide (FAD), synthesized from riboflavin, is redox cofactor in energy production and plays an important role in cell survival. More recently, riboflavin deficiency has been linked to developmental disorders, but its role in stem cell differentiation remains unclear. Here, we show that FAD treatment, using DMSO as a solvent, enabled an increase in the amount of intracellular FAD and promoted neuronal differentiation of human neural stem cells (NSCs) derived not only from fetal brain, but also from induced pluripotent stem cells. Read More

    Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
    J Pediatr Neurosci 2017 Jul-Sep;12(3):265-267
    Department of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. Read More

    Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
    Am J Med Genet A 2018 Feb 30;176(2):399-403. Epub 2017 Nov 30.
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
    Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. Read More

    Bombyx ortholog of the Drosophila eye color gene brown controls riboflavin transport in Malpighian tubules.
    Insect Biochem Mol Biol 2018 Jan 28;92:65-72. Epub 2017 Nov 28.
    Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, Japan. Electronic address:
    The Drosophila eye color gene brown is known to control the transport of pteridine precursors in adult eyes. The Brown protein belongs to the ATP-binding cassette (ABC) transporter G family, which includes proteins encoded by the genes brown, scarlet, and white. These genes are responsible for pigmentation in Drosophila and the domestic silkworm Bombyx mori. Read More

    Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks.
    Br J Nutr 2017 Nov;118(9):641-650
    3Human and Animal Physiology,Wageningen University,6700 AH Wageningen,the Netherlands.
    Suboptimal vitamin B2 status is encountered globally. Riboflavin deficiency depresses growth and results in a fatty liver. The underlying mechanisms remain to be established and an overview of molecular alterations is lacking. Read More

    Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.
    J Peripher Nerv Syst 2018 Mar 11;23(1):29-35. Epub 2017 Dec 11.
    Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia.
    Hand function is a problem in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and Riboflavin Transporter Deficiency type 2 (RTD2). However, a detailed understanding of upper limb involvement in these conditions is lacking. The aim of this pilot study was to compare hand and upper limb function between children with CMT1A, RTD2 and healthy controls using established and novel outcome measures. Read More

    Analysis of recipes of home-prepared diets for dogs and cats published in Portuguese.
    J Nutr Sci 2017 3;6:e33. Epub 2017 Jul 3.
    Department of Veterinary Clinic and Surgery, College of Agrarian and Veterinarian Sciences, UNESP - Sao Paulo State University, Via de Acesso Prof. Paulo Donato Castellane, Jaboticabal, SP, 14884-900, Brazil.
    The present study evaluated recipes of home-prepared diets for dogs and cats published in Portuguese. A total of 106 diets were evaluated: eighty for dogs, twenty-four for cats and two intended for both species. A commercial software package was used to analyse the diets, and an ingredient chemical composition database was built based on the Brazilian Tables of Food Composition and United States Department of Agriculture Nutrient Database. Read More

    An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    Mol Genet Metab 2017 Dec 2;122(4):182-188. Epub 2017 Nov 2.
    Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark. Electronic address:
    Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism, through its role as precursor for the cofactors flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which are electron carriers. The electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH), uses FAD as cofactor. The ETF and ETFDH are forming the electron transport pathway for many mitochondrial flavoprotein dehydrogenases involved in fatty acid, amino acid and choline metabolism. Read More

    Update on riboflavin and multiple sclerosis: a systematic review.
    Iran J Basic Med Sci 2017 Sep;20(9):958-966
    Department of Cellular and Molecular Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences, Tehran, Iran.
    Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis. Here, we systematically reviewed the literature concerning the health benefits of riboflavin on MS. Read More

    The potential contribution of yellow cassava to dietary nutrient adequacy of primary-school children in Eastern Kenya; the use of linear programming.
    Public Health Nutr 2018 Feb 2;21(2):365-376. Epub 2017 Oct 2.
    1Division of Human Nutrition,Wageningen University,Wageningen,The Netherlands.
    Objective: Introduction of biofortified cassava as school lunch can increase vitamin A intake, but may increase risk of other deficiencies due to poor nutrient profile of cassava. We assessed the potential effect of introducing a yellow cassava-based school lunch combined with additional food-based recommendations (FBR) on vitamin A and overall nutrient adequacy using Optifood (linear programming tool).

    Design: Cross-sectional study to assess dietary intakes (24 h recall) and derive model parameters (list of foods consumed, median serving sizes, food and food (sub)group frequency distributions, food cost). Read More

    Treatment Opportunities in Patients With Metabolic Myopathies.
    Curr Treat Options Neurol 2017 Sep 21;19(11):37. Epub 2017 Sep 21.
    Copenhagen Neuromuscular Centre, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.
    Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Read More

    A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Int J Neurosci 2018 Mar 9;128(3):291-294. Epub 2017 Oct 9.
    a Department of Neurology , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , P.R. China.
    Aim Of The Study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

    Materials And Methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed.

    Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Read More

    Is there a Link between Vitamin B and Multiple Sclerosis?
    Med Chem 2018 Feb;14(2):170-180
    Centre for Chronic Disease, College of Health and Biomedicine, Victoria University, Melbourne, Australia.
    Background: Damage to the myelin sheath (demyelination) is one of the main manifestations of multiple sclerosis (MS). Interestingly, both MS and vitamin B deficiencies result in severe myelin degeneration, leading to loss in neuronal signal transmission.

    Objective: Deficiency in vitamin B complex vary, although common symptoms include fatigue, increased oxidative stress, inflammation and demyelination. Read More

    A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in Gene: Clinical Course and Response to Riboflavin.
    Child Neurol Open 2017 Jan-Dec;4:2329048X17725610. Epub 2017 Aug 22.
    Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA.
    Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in and genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the gene, who presented at the age of 2. Read More

    Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.
    Mol Cell Biochem 2018 Mar 23;440(1-2):147-156. Epub 2017 Aug 23.
    Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, 625021, India.
    Deficiency or defective transport of riboflavin (RF) is known to cause neurological disorders, cataract, cardiovascular anomalies, and various cancers by altering the biochemical pathways. Mechanisms and regulation of RF uptake process is well characterized in the cells of intestine, liver, kidney, and brain origin, while very little is known in the heart. Hence, we aimed to understand the expression and regulation of RF transporters (rRFVT-1 and rRFVT-2) in cardiomyocytes during RF deficiency and also investigated the role of RF in ischemic cardiomyopathy and mitochondrial dysfunction in vivo. Read More

    Immobilization of Growth Factors to Collagen Surfaces Using Pulsed Visible Light.
    Biomacromolecules 2017 Oct 1;18(10):3185-3196. Epub 2017 Sep 1.
    Byers Eye Institute at Stanford University School of Medicine , Palo Alto, California 94303, United States.
    In the treatment of traumatic injuries, burns, and ulcers of the eye, inadequate epithelial tissue healing remains a major challenge. Wound healing is a complex process involving the temporal and spatial interplay between cells and their extracellular milieu. It can be impaired by a variety of causes including infection, poor circulation, loss of critical cells, and/or proteins, and a deficiency in normal neural signaling (e. Read More

    Influence of protein deficient diet, vitamin B[sub]2[/sub] supplementation and physical training on serum composition of polyunsaturated fatty acids (PUFAs) in rats.
    Ann Agric Environ Med 2017 May;24(2):185-189
    Department of Hygiene and Physiology, Military Institute of Hygiene and Epidemiology, Warsaw, Poland.
    [b]Introduction[/b]. Prolonged shortages of protein in the diet significantly alter the composition and content of polyunsaturated fatty acids (PUFA) in tissues and body fluids. One of nutritional factors which may reduce negative effects of protein malnutrition might be vitamin B[sub]2[/sub] due to its influence on lipids metabolism. Read More

    A vitamin-B2-sensing mechanism that regulates gut protease activity to impact animal's food behavior and growth.
    Elife 2017 06 1;6. Epub 2017 Jun 1.
    Department of Molecular, Cellular and Developmental Biology, Howard Hughes Medical Institute, University of Colorado Boulder, Boulder, United States.
    To survive challenging environments, animals acquired the ability to evaluate food quality in the intestine and respond to nutrient deficiencies with changes in food-response behavior, metabolism and development. However, the regulatory mechanisms underlying intestinal sensing of specific nutrients, especially micronutrients such as vitamins, and the connections to downstream physiological responses in animals remain underexplored. We have established a system to analyze the intestinal response to vitamin B (VB2) deficiency in , and demonstrated that VB2 level critically impacts food uptake and foraging behavior by regulating specific protease gene expression and intestinal protease activity. Read More

    Low vitamin B increases risk of gastric cancer: A prospective study of one-carbon metabolism nutrients and risk of upper gastrointestinal tract cancer.
    Int J Cancer 2017 09 21;141(6):1120-1129. Epub 2017 Jun 21.
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
    Previous studies have found associations between one-carbon metabolism nutrients and risk of several cancers, but little is known regarding upper gastrointestinal tract (UGI) cancer. We analyzed prediagnostic serum concentrations of several one-carbon metabolism nutrients (vitamin B12, folate, vitamin B6, riboflavin and homocysteine) in a nested case-control study within the Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study of male smokers, which was undertaken in Finland between 1985 and 1988. We conducted a nested case-control study including 127 noncardia gastric adenocarcinoma (NCGA), 41 esophagogastric junctional adenocarcinoma and 60 esophageal squamous cell carcinoma incident cases identified within ATBC. Read More

    Gluten-Free Flours from Different Raw Materials as the Source of Vitamin B, B, B and B.
    J Nutr Sci Vitaminol (Tokyo) 2017 ;63(2):125-132
    Department of Technology and Instrumental Analysis, Faculty of Commodity Science, Poznan University of Economics and Business.
    Gluten-free (GF) products are those with a natural absence or acceptable level (<20 mg/kg) of gluten. They should be a part of a diet for people with gluten-related disorders, like celiac disease. Recently the popularity of a gluten-free diet (GFD) has risen extremely, because a lot of healthy individuals exclude gluten from their menus. Read More

    Effect of copper(II) the activity of glutathione peroxidase in patients with head and neck cancer.
    Otolaryngol Pol 2016 Nov;70(6):20-25
    Department of Head and Neck Neoplasms Surgery Medical University of Lodz, Poland.
    Introduction: Head and neck squamous cell carcinoma (HNSCC) accounts for about 6% of all malignant cancers. In the epidemiology of oral cavity neoplasm, important risk factors include: tobacco smoking, alcohol abuse, bad oral hygiene, papilloma virus infection, riboflavin and iron deficiency.

    Objective: The objective of the investigation was a synthesis of Cu(II) complex and the evaluation of antioxidative enzymatic barrier in red blood cells of patients with head and neck tumor as well as in the control group. Read More

    Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.
    J Clin Med 2017 May 5;6(5). Epub 2017 May 5.
    Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India.
    Mitochondria are the repository for various metabolites involved in diverse energy-generating processes, like the TCA cycle, oxidative phosphorylation, and metabolism of amino acids, fatty acids, and nucleotides, which rely significantly on flavoenzymes, such as oxidases, reductases, and dehydrogenases. Flavoenzymes are functionally dependent on biologically active flavin adenine dinucleotide (FAD) or flavin mononucleotide (FMN), which are derived from the dietary component riboflavin, a water soluble vitamin. Riboflavin regulates the structure and function of flavoenzymes through its cofactors FMN and FAD and, thus, protects the cells from oxidative stress and apoptosis. Read More

    Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
    JIMD Rep 2018 30;38:33-40. Epub 2017 Apr 30.
    CRIBENS - Laboratory of Cellular Biochemistry and Molecular Biology, Catholic University, Milan, Italy.
    We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine or riboflavin, leading to a full recovery. In our patients, a combination of precipitating risk factors including previous anorexia, alcoholism, poor nutrition, and pregnancy contributed to a metabolic critical condition that precipitated the catabolic state. Read More

    Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
    Eur J Hum Genet 2017 06 26;25(7):886-888. Epub 2017 Apr 26.
    Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht, The Netherlands.
    In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes. Read More

    Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.
    Neuromuscul Disord 2017 Jun 9;27(6):581-584. Epub 2017 Mar 9.
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Department of Pediatric Neurology, Hospital for Children and Adolescence, Helsinki University Central Hospital, Helsinki, Finland.
    Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Read More

    Do Chinese Children Get Enough Micronutrients?
    Nutrients 2017 Apr 18;9(4). Epub 2017 Apr 18.
    National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.
    The aim of this study was to examine usual daily micronutrient intake of Chinese children based on data from the 2011 China Health and Nutrition Survey. We analyzed data from 4 to 17-year-old participants, who provided dietary data on three consecutive days combined with the household weighing method in 2011. Usual daily intake of each nutrient was estimated using a mixed effects model based on the China Food Composition published in 2009. Read More

    Vitamin B2 deficiency enhances the pro-inflammatory activity of adipocyte, consequences for insulin resistance and metabolic syndrome development.
    Life Sci 2017 Jun 14;178:9-16. Epub 2017 Apr 14.
    Department of Glycoconjugate Biochemistry, Institute of Zoology and Biomedical Research, Jagiellonian University, Gronostajowa 9, 30-387 Krakow, Poland. Electronic address:
    Aims: Adipose tissue is an endocrine organ important for regulation of such physiological processes as energy metabolism or lipids homeostasis. In an obesity state, it participates in the induction of chronic systemic inflammation accompanied by pro-inflammatory cytokines and fatty acid elevation. For this reasons, adipose tissue is involved in, e. Read More

    Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
    Neuropediatrics 2017 Jun 7;48(3):194-198. Epub 2017 Apr 7.
    PEDEGO Research Unit, Department of Children and Adolescents, Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland.
    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Read More

    Riboflavin deficiency induces a significant change in proteomic profiles in HepG2 cells.
    Sci Rep 2017 Apr 3;7:45861. Epub 2017 Apr 3.
    Institute of Health and Environmental Medicine, Tianjin, 300050, China.
    Riboflavin deficiency is widespread in many regions over the world, especially in underdeveloped countries. In this study, we investigated the effects of riboflavin deficiency on protein expression profiles in HepG2 cells in order to provide molecular information for the abnormalities induced by riboflavin deficiency. HepG2 cells were cultured in media containing different concentrations of riboflavin. Read More

    Biofortification of riboflavin and folate in idli batter, based on fermented cereal and pulse, by Lactococcus lactis N8 and Saccharomyces boulardii SAA655.
    J Appl Microbiol 2017 Jun 3;122(6):1663-1671. Epub 2017 May 3.
    Department of Food and Environmental Sciences, University of Helsinki, Finland.
    Aims: Lactococcus lactis N8 and Saccharomyces boulardii SAA655 were investigated for their ability to synthesize B-vitamins (riboflavin and folate) and their functional role as microbial starters in idli fermentation.

    Methods And Results: In this study, ultra-high performance liquid chromatography and microbiological assay were used to determine the total riboflavin and folate content respectively. Increased levels of folate were evident in both L. Read More

    Dietary Intake of Minerals, Vitamins, and Trace Elements Among Geriatric Population in India.
    Biol Trace Elem Res 2017 Nov 20;180(1):28-38. Epub 2017 Mar 20.
    Department of Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.
    The geriatric population is at a high risk of developing deficiencies of essential micronutrients such as minerals, vitamins, and trace elements and their related deficiency signs and symptoms. Scarce data is available on the dietary intake of essential micronutrients among geriatric subjects in India. Hence, to fill the gap in the existing knowledge, a community-based cross-sectional study was conducted during 2015-2016 in District Nainital, Uttarakhand State, India. Read More

    Micronutrient-Fortified Milk and Academic  Performance among Chinese Middle School Students:  A Cluster-Randomized Controlled Trial.
    Nutrients 2017 Mar 2;9(3). Epub 2017 Mar 2.
    Department of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an 710061, China.
    Many children suffer from nutritional deficiencies that may negatively affect their academic performance. This cluster-randomized controlled trial aimed to test the effects of micronutrient-fortified milk in Chinese students. Participants received either micronutrient-fortified (n = 177) or unfortified (n = 183) milk for six months. Read More

    Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.
    Eur J Neurol 2017 04 9;24(4):587-593. Epub 2017 Feb 9.
    Department of Pathology and Genetics, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg.
    Background And Purpose: Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1 has previously been described in a few individuals with a possibly riboflavin-responsive myopathy and an association with sudden infant death syndrome was suspected. Read More

    Riboflavin Deficiency in Rats Decreases de novo Formate Production but Does Not Affect Plasma Formate Concentration.
    J Nutr 2017 03 25;147(3):346-352. Epub 2017 Jan 25.
    Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada;
    The one-carbon metabolism pathway is highly dependent on a number of B vitamins in order to provide one-carbon units for purine and thymidylate biosynthesis as well as homocysteine remethylation. Previous studies have examined folate and vitamin B-12 deficiency and their effects on formate metabolism; as of yet, to our knowledge, no studies on the effects of riboflavin deficiency on formate metabolism have been published. Our objective was to determine the effects of riboflavin deficiency on formate metabolism. Read More

    Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
    J Child Neurol 2017 05 24;32(6):528-532. Epub 2017 Jan 24.
    1 Division of Neurology, Children's Mercy Hospital, Kansas City, MO, USA.
    We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. Read More

    An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
    Mol Genet Metab Rep 2017 Mar 29;10:38-44. Epub 2016 Dec 29.
    Phoenix Children's Hospital, Division of Genetics and Metabolism, United States; Phoenix Children's Hospital Rosenberg Children's Medical Building 1920 E. Cambridge Ave Ste 301 Phoenix, AZ 85006, United States.
    Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). Read More

    Potential Links between Impaired One-Carbon Metabolism Due to Polymorphisms, Inadequate B-Vitamin Status, and the Development of Alzheimer's Disease.
    Nutrients 2016 Dec 10;8(12). Epub 2016 Dec 10.
    DSM Nutritional Products Ltd., Wurmisweg 576, Kaiseraugst 4303, Switzerland.
    Alzheimer's disease (AD) is the major cause of dementia and no preventive or effective treatment has been established to date. The etiology of AD is poorly understood, but genetic and environmental factors seem to play a role in its onset and progression. In particular, factors affecting the one-carbon metabolism (OCM) are thought to be important and elevated homocysteine (Hcy) levels, indicating impaired OCM, have been associated with AD. Read More

    Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
    Muscle Nerve 2017 Sep 21;56(3):479-485. Epub 2017 Mar 21.
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
    Introduction: c.250G>A (p.Ala84Thr) in ETFDH is the most common mutation that causes later-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) in the southern Chinese population. Read More

    Plasma Riboflavin Level is Associated with Risk, Relapse, and Survival of Esophageal Squamous Cell Carcinoma.
    Nutr Cancer 2017 01 29;69(1):21-28. Epub 2016 Nov 29.
    a Key Laboratory of Molecular Biology in High Cancer Incidence Coastal Chaoshan Area of Guangdong Higher Education Institutes, Shantou University Medical College , Shantou , China.
    Riboflavin is an essential micronutrient for normal cellular activity, and deficiency may result in disease, such as cancer. We performed a case-control study to explore the association of riboflavin levels with risk and prognosis of esophageal squamous cell carcinoma (ESCC). Plasma riboflavin levels, as measured by enzyme-linked immunosorbent assay (ELISA), in ESCC patients were significantly lower than in those of healthy controls (7. Read More

    Surfactant-free microemulsion electrokinetic chromatography (SF-MEEKC) with UV and MS detection - a novel approach for the separation and ESI-MS detection of neutral compounds.
    Anal Bioanal Chem 2016 Dec 19;408(30):8681-8689. Epub 2016 Nov 19.
    Institute of Analytical Chemistry, Chemo- and Biosensors, University of Regensburg, Universitätsstraße 31, 93053, Regensburg, Germany.
    Microemulsion electrokinetic chromatography (MEEKC) is a powerful tool to separate neutral species based on differences in their hydrophobic and hydrophilic properties. However, as a major drawback the conventionally used SDS based microemulsions are not compatible with electrospray ionization mass spectrometry (ESI-MS). In this work, a surfactant-free microemulsion (SFME) consisting of water, ethanol, and 1-octanol is used for surfactant-free microemulsion electrokinetic chromatography (SF-MEEKC). Read More

    Causes, Consequences and Public Health Implications of Low B-Vitamin Status in Ageing.
    Nutrients 2016 Nov 16;8(11). Epub 2016 Nov 16.
    Northern Ireland Centre for Food and Health, Ulster University, Cromore Road, Coleraine BT52 1SA, UK.
    The potential protective roles of folate and the metabolically related B-vitamins (vitamins B12, B6 and riboflavin) in diseases of ageing are of increasing research interest. The most common cause of folate and riboflavin deficiencies in older people is low dietary intake, whereas low B12 status is primarily associated with food-bound malabsorption, while sub-optimal vitamin B6 status is attributed to increased requirements in ageing. Observational evidence links low status of folate and the related B-vitamins (and/or elevated concentrations of homocysteine) with a higher risk of degenerative diseases including cardiovascular disease (CVD), cognitive dysfunction and osteoporosis. Read More

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