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    1985 results match your criteria Riboflavin Deficiency

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    Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
    Eur J Hum Genet 2017 Apr 26. 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 Mar 9. 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 Apr 14. Epub 2017 Apr 14.
    Department of Glycoconjugate Biochemistry, Institute of Zoology, 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 Apr 7. 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

    Dietary Intake of Minerals, Vitamins, and Trace Elements Among Geriatric Population in India.
    Biol Trace Elem Res 2017 Mar 20. 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

    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 Apr 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 Mar 25;147(3):346-352. Epub 2017 Jan 25.
    Department of Biochemistry, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada;
    Background: 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.Objective: 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 May 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 2016 Dec 9. Epub 2016 Dec 9.
    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 Jan 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

    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

    Equine atypical myopathy: A metabolic study.
    Vet J 2016 Oct 29;216:125-32. Epub 2016 Jul 29.
    Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacký University, Hněvotínská 5, 779 00 Olomouc, Czech Republic; Laboratory for Inherited Metabolic Disorders, University Hospital and Faculty of Medicine and Dentistry, Palacký University, I.P. Pavlova 6, 775 20 Olomouc, Czech Republic.
    Atypical myopathy (AM) is a potentially fatal disease of grazing horses. It is reportedly caused by the ingestion of sycamore seeds containing toxic hypoglycin A. In order to study metabolic changes, serum and urine samples from nine horses with atypical myopathy and 12 control samples from clinically healthy horses were collected and then analysed using a high-performance liquid chromatography coupled with tandem mass spectrometry; serum metabolic profiles as the disease progressed were also studied. Read More

    Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models.
    Br J Nutr 2016 Oct 19;116(7):1229-1235. Epub 2016 Sep 19.
    1Centro de Referencia para Lactobacilos - Consejo Nacional de Investigaciones Científicas y Técnicas (CERELA-CONICET),Chacabuco 145,4000,Tucumán,Argentina.
    It has been previously shown that Lactobacillus plantarum CRL 2130 is able to produce riboflavin in soyamilk. The aim of the present study was to evaluate the efficiency of this riboflavin-bio-enriched soyamilk to revert and/or prevent the nutritional deficiency of riboflavin using different animal models. When used to supplement the diets of previously depleted animals, it was shown that the growth, riboflavin status and morphology of the small intestines reverted to normal parameters and were similar to animals supplemented with commercial riboflavin. Read More

    Alkaline stress and iron deficiency regulate iron uptake and riboflavin synthesis gene expression differently in root and leaf tissue: implications for iron deficiency chlorosis.
    J Exp Bot 2016 Oct 7;67(19):5671-5685. Epub 2016 Sep 7.
    Department of Agronomy and Horticulture, University of Nebraska-Lincoln, Lincoln, NE 68583-0915, USA
    Iron (Fe) is an essential mineral that has low solubility in alkaline soils, where its deficiency results in chlorosis. Whether low Fe supply and alkaline pH stress are equivalent is unclear, as they have not been treated as separate variables in molecular physiological studies. Additionally, molecular responses to these stresses have not been studied in leaf and root tissues simultaneously. Read More

    A comparison of food pattern, macro- and some micronutrients density of the diet across different socio-economic zones of Tehran.
    Med J Islam Repub Iran 2016 7;30:340. Epub 2016 Mar 7.
    PhD, Assistant Professor, Department of Food and Nutrition Policy and Planning Research, National Nutrition and Food Technology Research Institute, Faculty of Nutrition and Food Technology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: The consumption of low quality foods is common in low socioeconomic areas; and according to epidemiological studies, the density of nutrients often proves the quality of diet. This study aimed to compare the density of macronutrients and micronutrients in various parts of Tehran.

    Methods: This was a cross-sectional study performed from September to December 2007 in all the 22 districts of the municipality of Tehran including 1,807 households. Read More

    Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.
    Sci Rep 2016 Jun 8;6:27557. Epub 2016 Jun 8.
    Department of Clinical Pharmacology and Therapeutics, Kyoto University Hospital, Sakyo-ku, Kyoto 606-8507, Japan.
    Homeostasis of riboflavin should be maintained by transporters. Previous in vitro studies have elucidated basic information about riboflavin transporter RFVT3 encoded by SLC52A3 gene. However, the contribution of RFVT3 to the maintenance of riboflavin homeostasis and the significance in vivo remain unclear. Read More

    Riboflavin transport and metabolism in humans.
    J Inherit Metab Dis 2016 Jul 6;39(4):545-57. Epub 2016 Jun 6.
    Dipartimento DiBEST (Biologia, Ecologia, Scienze della Terra), Unità di Biochimica e Biotecnologie Molecolari, Università della Calabria, via Bucci 4c, I-87036, Arcavacata di Rende, Italy.
    Recent studies elucidated how riboflavin transporters and FAD forming enzymes work in humans and create a coordinated flavin network ensuring the maintenance of cellular flavoproteome. Alteration of this network may be causative of severe metabolic disorders such as multiple acyl-CoA dehydrogenase deficiency (MADD) or Brown-Vialetto-van Laere syndrome. A crucial step in the maintenance of FAD homeostasis is riboflavin uptake by plasma and mitochondrial membranes. Read More

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
    Am J Hum Genet 2016 Jun;98(6):1130-45
    Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
    Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries. Read More

    Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
    Mol Genet Metab 2016 Jul 13;118(3):185-9. Epub 2016 May 13.
    Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Service de Neurologie pédiatrique, B-1200 Brussels, Belgium. Electronic address:
    Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This protein also exhibits acyl-CoA dehydrogenase (ACAD) activity. ACAD9-mutated patients have been reported to suffer from primarily heart, muscle, liver, and nervous system disorders. Read More

    Estimating dietary micronutrient supply and the prevalence of inadequate intakes from national Food Balance Sheets in the South Asia regiona.
    Asia Pac J Clin Nutr 2016 ;25(2):368-76
    Sight and Life, Basel, Switzerland. Email:
    Micronutrient deficiencies continue to be a major public health concern worldwide with many South Asian countries suffering a significant proportion of the global burden. A lack of nationally representative data on micronutrient deficiencies hampers sustained action to address the problem. Using data on the national food supply produced by the Food and Agriculture Organisation of the United Nations, and international food composition tables, the present study estimated the prevalence of inadequacy of seven micronutrients (vitamin A, thiamine, riboflavin, folate, vitamin B-12, zinc and calcium) in seven South Asian countries--Bangladesh, India, Iran, Maldives, Nepal, Pakistan and Sri Lanka. Read More

    Riboflavin status, MTHFR genotype and blood pressure: current evidence and implications for personalised nutrition.
    Proc Nutr Soc 2016 08 12;75(3):405-14. Epub 2016 May 12.
    Northern Ireland Centre for Food and Health,University of Ulster,Coleraine,BT52 1SA,UK.
    Clinical deficiency of the B-vitamin riboflavin (vitamin B2) is largely confined to developing countries; however accumulating evidence indicates that suboptimal riboflavin status is a widespread problem across the developed world. Few international data are available on riboflavin status as measured by the functional biomarker, erythrocyte glutathione reductase activation coefficient, considered to be the gold standard index. One important role of riboflavin in the form of flavin dinucleotide is as a co-factor for the folate-metabolising enzyme methylenetetrahydrofolate reductase (MTHFR). Read More

    Lipolysis and lipophagy in lipid storage myopathies.
    Biochim Biophys Acta 2016 Jul 13;1862(7):1367-73. Epub 2016 Apr 13.
    Fondazione San Camillo Hospital IRCCS, via Alberoni 70, 30126 Lido Venice, Italy.
    Aims: Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism.

    Methods: We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency. Read More

    Riboflavin and health: A review of recent human research.
    Crit Rev Food Sci Nutr 2016 Mar 30. Epub 2016 Mar 30.
    c Dairy Chemistry Division, ICAR -National Dairy Research Institute , Karnal , Haryana , India.
    There has lately been a renewed interest in Riboflavin owing to insight into its recognition as an essential component of cellular biochemistry. The knowledge of the mechanisms and regulation of intestinal absorption of riboflavin and its health implications has significantly been expanded in recent years. The purpose of this review is to provide an overview of the importance of riboflavin, its absorption and metabolism in health and diseased conditions, its deficiency and its association with various health diseases and metabolic disorders. Read More

    SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
    Hum Mol Genet 2016 May 13;25(9):1814-23. Epub 2016 Mar 13.
    Department of Stem Cell and Regenerative Biology, The Harvard Stem Cell Institute, Harvard University, Sherman Fairchild Building, 7 Divinity Avenue, Cambridge, MA 02138, USA and The Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Riboflavin, also known as vitamin B2, is essential for cellular reduction-oxidation reactions, but is not readily synthesized by mammalian cells. It has been proposed that riboflavin absorption occurs through solute carrier family 52 members (SLC52) A1, A2 and A3. These transporters are also candidate genes for the childhood onset-neural degenerative syndrome Brown-Vialetto-Van Laere (BVVL). Read More

    Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.
    J Inherit Metab Dis 2016 Jul 14;39(4):559-64. Epub 2016 Mar 14.
    Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
    Introduction: Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL) syndrome, now renamed to riboflavin transporter deficiency. Read More

    Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
    Ann Clin Lab Sci 2016 ;46(1):97-101
    Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
    Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD; OMIM#201475) is a rare metabolic disorder of mitochondrial fatty acid oxidation. VLCADD includes three clinical forms that are grouped based on disease severity. Here, we present two unrelated patients suspected of having VLCADD based on a newborn screening test. Read More

    Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
    Dev Med Child Neurol 2016 Aug 25;58(8):848-54. Epub 2016 Feb 25.
    Sydney Cochlear Implant Centre, Sydney, NSW, Australia.
    Aim: Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. Read More

    Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome.
    J Investig Med High Impact Case Rep 2015 Jul-Sep;3(3):2324709615607908. Epub 2015 Sep 24.
    Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas-Junta de Andalucía, Seville, Spain.
    Introduction. Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken. Methods. Read More

    A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
    Chin Med J (Engl) 2016 Jan;129(2):142-6
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
    Background: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Read More

    Dietary Micronutrient Intake and Micronutrient Status in Patients With Chronic Stable Heart Failure: An Observational Study.
    J Cardiovasc Nurs 2017 Mar/Apr;32(2):148-155
    Nicholas A. McKeag, MB, BCh, PhD Clinical Research Fellow, Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, and The Heart Centre, Belfast Health & Social Care Trust, United Kingdom. Michelle C. McKinley, PhD Senior Lecturer, Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, Belfast, United Kingdom. Mark T. Harbinson, MD Senior Lecturer, Centre for Medical Education, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, and The Heart Centre, Belfast Health & Social Care Trust, United Kingdom. Ann McGinty, PhD Lecturer, Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, Belfast, United Kingdom. Charlotte E. Neville, PhD Research Fellow, Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, Belfast, United Kingdom. Jayne V. Woodside, PhD Professor, Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, Belfast, United Kingdom. Pascal P. McKeown, MD Professor, Centre for Medical Education, School of Medicine, Dentistry & Biomedical Sciences, Queen's University, and The Heart Centre, Belfast Health & Social Care Trust, United Kingdom.
    Background: Observational studies suggest that patients with heart failure have a tendency to a reduced status of a number of micronutrients and that this may be associated with an adverse prognosis. A small number of studies also suggest that patients with heart failure may have reduced dietary intake of micronutrients, a possible mechanism for reduced status.

    Objective: The aims of this study were to assess dietary micronutrient intake and micronutrient status in a group of patients with heart failure. Read More

    B Vitamins and the Brain: Mechanisms, Dose and Efficacy--A Review.
    Nutrients 2016 Jan 27;8(2):68. Epub 2016 Jan 27.
    Brain, Performance and Nutrition Research Centre, Northumbria University, Newcastle-upon-Tyne NE1 8ST, UK.
    The B-vitamins comprise a group of eight water soluble vitamins that perform essential, closely inter-related roles in cellular functioning, acting as co-enzymes in a vast array of catabolic and anabolic enzymatic reactions. Their collective effects are particularly prevalent to numerous aspects of brain function, including energy production, DNA/RNA synthesis/repair, genomic and non-genomic methylation, and the synthesis of numerous neurochemicals and signaling molecules. However, human epidemiological and controlled trial investigations, and the resultant scientific commentary, have focused almost exclusively on the small sub-set of vitamins (B9/B12/B6) that are the most prominent (but not the exclusive) B-vitamins involved in homocysteine metabolism. Read More

    Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency.
    Neuromuscul Disord 2016 Feb 18;26(2):170-5. Epub 2015 Dec 18.
    Department of Neurology, Peking University First Hospital, Beijing, China. Electronic address:
    Multiple Acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation. Most patients with late-onset MADD are clinically characterized by lipid storage myopathy with dramatic responsiveness to riboflavin treatment. Abnormalities of peripheral neuropathy have rarely been reported in patients with late-onset MADD. Read More

    Determination of vitamins, minerals, and microbial loads of fortified nonalcoholic beverage (kunun zaki) produced from millet.
    Food Sci Nutr 2016 Jan 30;4(1):96-102. Epub 2015 Jul 30.
    Department of Food Science and Technology Michael Okpara University of Agriculture Umudike Abia State Nigeria.
    The objective of this study was to evaluate the possibility of fortifying kunun zaki with tigernut milk extract due to nutritional deficiency of the former. Kunun zaki and tigernut milk extract (TME) were produced using traditional methods, with little modification. They were mixed in respective percentages of 90:10 (KN10), 80:20 (KN20), and 70:30 (KN30) while whole kunun zaki without addition of tigernut milk extract (KN00) served as control. Read More

    Immunomodulatory effect of riboflavin deficiency and enrichment - reversible pathological response versus silencing of inflammatory activation.
    J Physiol Pharmacol 2015 Dec;66(6):793-802
    Department of Evolutionary Immunobiology, Institute of Zoology, Jagiellonian University, Cracow, Poland.
    Ariboflavinosis, that is, vitamin B2 deficiency, is a common problem affecting the populations of both developing and affluent countries. Teenagers, elderly people, pregnant women, and alcohol abusers represent groups that are particularly susceptible to this condition. This study was aimed to determine the effect of different riboflavin concentrations (deficiency and supplementation) on macrophages response induced by bacteria or yeast-derived factors i. Read More

    Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
    Cell Metab 2016 Feb 31;23(2):292-302. Epub 2015 Dec 31.
    Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, 20892, Bethesda, MD, USA. Electronic address:
    SDHAF1 mutations cause a rare mitochondrial complex II (CII) deficiency, which manifests as infantile leukoencephalopathy with elevated levels of serum and white matter succinate and lactate. Here, we demonstrate that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB. SDHAF1 transiently binds to aromatic peptides of SDHB through an arginine-rich region in its C terminus and specifically engages a Fe-S donor complex, consisting of the scaffold, holo-ISCU, and the co-chaperone-chaperone pair, HSC20-HSPA9, through an LYR motif near its N-terminal domain. Read More

    Dairy foods and health in Asians: Taiwanese considerations.
    Asia Pac J Clin Nutr 2015 ;24 Suppl 1:S14-20
    Department of Environmental and Occupational Health, College of Medicine, National Cheng-Kung University, Tainan City, Taiwan, ROC.
    The health relevance of dairy products has mostly been judged by their abundant nutrients (protein, calcium and riboflavin) and recommendations for these derived in lactase-persistent Caucasian populations. Extrapolation to Asians who are generally lactase non-persisters may not be biologically, culturally or environmentally sound. A number of studies, especially among north-east Asians as in Taiwan, provide guidance for their optimal dairy intakes. Read More

    Motor development related to duration of exclusive breastfeeding, B vitamin status and B12 supplementation in infants with a birth weight between 2000-3000 g, results from a randomized intervention trial.
    BMC Pediatr 2015 Dec 18;15:218. Epub 2015 Dec 18.
    Laboratory of Clinical Biochemistry, Haukeland University Hospital, N-5021 Bergen, Norway.
    Background: Exclusive breastfeeding for 6 months is assumed to ensure adequate micronutrients for term infants. Our objective was to investigate the effects of prolonged breastfeeding on B vitamin status and neurodevelopment in 80 infants with subnormal birth weights (2000-3000 g) and examine if cobalamin supplementation may benefit motor function in infants who developed biochemical signs of impaired cobalamin function (total homocysteine (tHcy) > 6.5 μmol/L) at 6 months. Read More

    Antiretroviral therapy provided to HIV-infected Malawian women in a randomized trial diminishes the positive effects of lipid-based nutrient supplements on breast-milk B vitamins.
    Am J Clin Nutr 2015 Dec 4;102(6):1468-74. Epub 2015 Nov 4.
    Department of Nutrition, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC;
    Background: Little information is available on B vitamin concentrations in human milk or on how they are affected by maternal B vitamin deficiencies, antiretroviral therapy, or maternal supplementation.

    Objective: The objective was to evaluate the effects of antiretroviral therapy and/or lipid-based nutrient supplements (LNSs) on B vitamin concentrations in breast milk from HIV-infected women in Malawi.

    Design: Breast milk was collected from 537 women recruited within the Breastfeeding, Antiretrovirals, and Nutrition study at 2 or 6 wk and 24 wk postpartum. Read More

    Cucumis sativus secretes 4'-ketoriboflavin under iron-deficient conditions.
    Biosci Biotechnol Biochem 2016 2;80(2):363-7. Epub 2015 Nov 2.
    c Department of Fermentation Science , Tokyo University of Agriculture , Tokyo , Japan.
    A new compound in cucumber, Cucumis sativus, nutrient solution that appears under iron-deficient conditions, but not under ordinary culture conditions, has been revealed by HPLC analysis. The chemical structure of this compound was identified using LC-MS and NMR techniques as that of 4'-ketoriboflavin. This is the first report to show that 4'-ketoriboflavin can be found in metabolites from organisms. Read More

    Elevated anthranilic acid plasma concentrations in type 1 but not type 2 diabetes mellitus.
    Integr Mol Med 2015;2(5):365-368. Epub 2015 Sep 25.
    Psychiatry and Inflammation Program, Department of Psychiatry, Tufts University School of Medicine/Tufts Medical Center, Boston, MA, 02111, USA.
    Experimental data suggested involvement of tryptophan (Trp) - kynurenine (Kyn) pathway (TKP) in mechanisms of autoimmune, type 1 (T1D), and metabolic, type 2 (T2D), diabetes. However, clinical evaluations of TKP metabolites were limited to T2D. We assessed Trp, Kyn and TKP metabolites: anthranilic (AA), kynurenic (KYNA) and xanthurenic (XA) acids, in plasma samples of fifteen T1D, thirty T2D patients and twenty eight non-diabetic subjects by HPLC-mass spectrometry. Read More

    Intestinal immune function, antioxidant status and tight junction proteins mRNA expression in young grass carp (Ctenopharyngodon idella) fed riboflavin deficient diet.
    Fish Shellfish Immunol 2015 Nov 28;47(1):470-84. Epub 2015 Sep 28.
    Animal Nutrition Institute, Sichuan Agricultural University, Chengdu 611130, China; Fish Nutrition and Safety Production University Key Laboratory of Sichuan Province, Sichuan Agricultural University, Chengdu 611130, China; Key Laboratory for Animal Disease-Resistance Nutrition of China Ministry of Education, Sichuan Agricultural University, Chengdu 611130, China. Electronic address:
    This study investigated the effects of riboflavin on intestinal immunity, tight junctions and antioxidant status of young grass carp (Ctenopharyngodon idella). Fish were fed diets containing graded levels of riboflavin (0.63-10. Read More

    Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
    JIMD Rep 2016 27;27:39-45. Epub 2015 Sep 27.
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris Descartes, Institut Imagine, Paris, France.
    Classical neonatal-onset glutaric aciduria type 2 (MAD deficiency) is a severe disorder of mitochondrial fatty acid oxidation associated with poor survival. Secondary dysfunction of acyl-CoA dehydrogenases may result from deficiency for riboflavin transporters, leading to severe disorders that, nevertheless, are treatable by riboflavin supplementation. In the last 10 years, we identified nine newborns with biochemical features consistent with MAD deficiency, only four of whom survived past the neonatal period. Read More

    Arming of MAIT Cell Cytolytic Antimicrobial Activity Is Induced by IL-7 and Defective in HIV-1 Infection.
    PLoS Pathog 2015 Aug 21;11(8):e1005072. Epub 2015 Aug 21.
    Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
    Mucosa-associated invariant T (MAIT) cells represent a large innate-like evolutionarily conserved antimicrobial T-cell subset in humans. MAIT cells recognize microbial riboflavin metabolites from a range of microbes presented by MR1 molecules. MAIT cells are impaired in several chronic diseases including HIV-1 infection, where they show signs of exhaustion and decline numerically. Read More

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