2,075 results match your criteria Riboflavin Deficiency


Iron Regulation in .

Front Microbiol 2018 24;9:3183. Epub 2018 Dec 24.

Braunschweig Integrated Centre of Systems Biology (BRICS), Technische Universität Braunschweig, Braunschweig, Germany.

The response to iron limitation of several bacteria is regulated by the ferric uptake regulator (Fur). The Fur-regulated transcriptional, translational and metabolic networks of the Gram-positive, pathogen were investigated by a combined RNA sequencing, proteomic, metabolomic and electron microscopy approach. At high iron conditions (15 μM) the mutant displayed a growth deficiency compared to wild type cells. Read More

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http://dx.doi.org/10.3389/fmicb.2018.03183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311696PMC
December 2018

Assessment of Dietary Intake and Nutrient Gaps, and Development of Food-Based Recommendations, among Pregnant and Lactating Women in Zinder, Niger: An Optifood Linear Programming Analysis.

Nutrients 2019 Jan 2;11(1). Epub 2019 Jan 2.

Program in International and Community Nutrition, Department of Nutrition, University of California, Davis, CA 95616, USA.

Pregnant and lactating women in rural Niger are at high risk for inadequate intakes of multiple micronutrients. Thus, 24 h dietary recalls were conducted and analyzed for dietary intakes in this population ( = 202). Using linear programming analyses, micronutrient gaps in women's diets were identified, food-based recommendations (FBR) to improve dietary micronutrient adequacy were developed, and various supplementation strategies were modelled. Read More

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http://dx.doi.org/10.3390/nu11010072DOI Listing
January 2019

Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.

BMC Neurol 2018 Dec 26;18(1):219. Epub 2018 Dec 26.

Department of Neurology, Peking University People's Hospital, #11 Xizhimen South Avenue, Xicheng District, Beijing, 100044, China.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropathy. However, no patients of acute-onset MADD mimicking the GBS phenotype are reported previously. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-018-1221-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306005PMC
December 2018
5 Reads

[Effect of B-vitamin deficiency on biochemical, immunologic markers and trace element status of rats and mice of various lines].

Vopr Pitan 2018 13;87(4):14-24. Epub 2018 Jul 13.

Federal Research Centre of Nutrition, Biotechnology and Food Safety, Moscow.

Biochemical, vitamin, trace element and immunological changes were searched for the combined nutritional deficiency of vitamins B1, B2, B6 on in vivo models in rats and mice. Female rats of Wistar (W) strain and hybrids of the 1st generation of Dark Aguti and Wistar (DA x W) strains, female mice of BALB/c strain and DBCB tetrahybrids were used in experiment. Animals received for 35 days a balanced diet (control) according to AIN-93 or a similar diet with the exception of vitamins B1, B2, B6 (experimental groups). Read More

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http://dx.doi.org/10.24411/0042-8833-2018-10037DOI Listing

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Metab Brain Dis 2018 Dec 20. Epub 2018 Dec 20.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

Glutaric aciduria type 1 is a neurometabolic disorder, caused by riboflavin-dependent glutaryl-CoA dehydrogenase deficiency. As its consequence, accumulation of the putatively neurotoxic metabolites (glutaric and 3-hydroxyglutaric acids) in body tissues, but especially within the brain, is observed. Estimated incidence of the disease is 1 in 110,000 newborns, The prevalence however may be higher, depending on a specific ethnic group, and result in phenotypic variation as well. Read More

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http://dx.doi.org/10.1007/s11011-018-0357-5DOI Listing
December 2018

Micronutrient intakes and status assessed by probability approach among the urban adult population of Hyderabad city in South India.

Eur J Nutr 2018 Dec 3. Epub 2018 Dec 3.

Biochemistry, National Institute of Nutrition, Jamai-Osmania, Tarnaka, Hyderabad, 500 007, India.

Purpose: To assess the dietary inadequacies of micronutrients and the associated factors among the apparently healthy urban adults.

Methods: This community-based cross-sectional study involved 300 urban adults (distributed into age groups: 21-40, 41-60, and > 60 years) residing in Hyderabad city, South India. Hemoglobin in whole blood, ferritin, folate, and vitamin B12 (B12) in plasma was estimated. Read More

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http://dx.doi.org/10.1007/s00394-018-1859-yDOI Listing
December 2018
2 Reads
3.467 Impact Factor

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.

World J Clin Cases 2018 Nov;6(14):786-790

Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories, Istanbul 34752, Turkey.

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Read More

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http://dx.doi.org/10.12998/wjcc.v6.i14.786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264994PMC
November 2018
1 Read

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.

Medicine (Baltimore) 2018 Nov;97(48):e13153

Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China.

Rationale: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group, which has been confirmed by novel mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH). So far, a few cases have been reported with long-term follow-up. Here we report a case of late-onset MADD where the patient was followed up for 8 years during which time he underwent 2 muscle biopsies and 2 pathological examinations and his symptoms were significantly alleviated after appropriate treatments. Read More

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http://dx.doi.org/10.1097/MD.0000000000013153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283216PMC
November 2018
1 Read

An update on diagnosis and therapy of metabolic myopathies.

Authors:
Josef Finsterer

Expert Rev Neurother 2018 Dec 27;18(12):933-943. Epub 2018 Nov 27.

a Krankenanstalt Rudolfstiftung, Messerli Institute , Veterinary University of Vienna , Vienna , Austria.

Introduction: Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle fiber energetics. Diagnosing metabolic myopathies requires a thoroughly taken individual and family history, a meticulous neurologic exam, exercise tests, blood and urine tests, needle-electromyography, nerve-conduction studies, muscle biopsy, targeted genetic tests, or next-generation sequencing. There is limited evidence from the literature to guide treatment of metabolic myopathies. Read More

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https://www.tandfonline.com/doi/full/10.1080/14737175.2018.1
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http://dx.doi.org/10.1080/14737175.2018.1550360DOI Listing
December 2018
8 Reads

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Brain 2018 Dec;141(12):3319-3330

Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Read More

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http://dx.doi.org/10.1093/brain/awy280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312041PMC
December 2018
1 Read

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Mol Genet Metab 2019 Jan 22;126(1):64-76. Epub 2018 Oct 22.

Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M, Denmark. Electronic address:

Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mitochondrial function, and more recently it was shown to restore fatty acid β-oxidation (FAO) capacities in patient fibroblasts harboring mutations with residual enzyme activity. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183049
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http://dx.doi.org/10.1016/j.ymgme.2018.10.004DOI Listing
January 2019
4 Reads

Adherence to the Mediterranean diet was positively associated with micronutrient adequacy and negatively associated with dietary energy density among adolescents.

J Hum Nutr Diet 2018 Nov 13. Epub 2018 Nov 13.

Nutrition Division, Public Health Services, Ministry of Health, Jerusalem, Israel.

Background: The possible associations between adherence to the Mediterranean diet and micronutrient and energy intakes are unknown among Israeli adolescents.

Methods: A cross-sectional, nationally representative, school-based study was conducted in Israeli adolescents. Schoolchildren (n = 5005), aged 11-18 years, who completed a food frequency questionnaire and had complete data to compose a 14-item modified KIDMED score were included. Read More

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http://doi.wiley.com/10.1111/jhn.12602
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http://dx.doi.org/10.1111/jhn.12602DOI Listing
November 2018
7 Reads

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Lipids Health Dis 2018 Nov 13;17(1):254. Epub 2018 Nov 13.

Fondazione Ospedale San Camillo IRCCS, via Alberoni 70, 30126, Venice, Italy.

Background: Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakness and multisystem dysfunctions. Many patients with late onset of MADD improve when treated with riboflavin and are also referred to as RR-MADD (riboflavin-responsive multiple Acyl-CoA dehydrogenase disorder). Read More

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https://lipidworld.biomedcentral.com/articles/10.1186/s12944
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http://dx.doi.org/10.1186/s12944-018-0903-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234560PMC
November 2018
7 Reads

Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency.

Cerebellum Ataxias 2018 20;5:12. Epub 2018 Oct 20.

1Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095 USA.

Background: Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical, presentation may be variable and an atypical condition may be difficult to recognize clinically.

Case Presentation: Here we report a patient presenting at age 8 with progressive ataxia since the age of 2. Read More

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https://cerebellumandataxias.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s40673-018-0091-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196015PMC
October 2018
6 Reads

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism Relat Disord 2018 Oct 15. Epub 2018 Oct 15.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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http://dx.doi.org/10.1016/j.parkreldis.2018.10.017DOI Listing
October 2018
10 Reads

Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome.

Cochlear Implants Int 2019 Jan 18;20(1):31-38. Epub 2018 Oct 18.

b Paediatric ENT Department , Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK.

Objective: Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder associated with auditory neuropathy (AN). The decision process for CI in AN is evolving with increasing evidence of efficacy. We evaluated the benefit of CI in children with BVVL syndrome. Read More

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http://dx.doi.org/10.1080/14670100.2018.1534035DOI Listing
January 2019
1 Read

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Rev Neurol (Paris) 2018 Dec 11;174(10):731-735. Epub 2018 Oct 11.

Centre de référence de pathologie neuromusculaire Paris-Est, institut de Myologie, GH Pitié-Salpêtrière, 75013 Paris, France.

We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m.15579A>G, p.Tyr278Cys and m. Read More

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http://dx.doi.org/10.1016/j.neurol.2018.03.014DOI Listing
December 2018

A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.

JIMD Rep 2018 Oct 12. Epub 2018 Oct 12.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is a clinically heterogeneous disorder affecting fatty acid and amino acid metabolism. Presentations range from a severe neonatal form with hypoglycemia, metabolic acidosis, and hepatomegaly with or without congenital anomalies to later-onset lipid storage myopathy. Genetic testing for MADD traditionally comprises analysis of ETFA, ETFB, and ETFDH. Read More

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http://dx.doi.org/10.1007/8904_2018_139DOI Listing
October 2018
1 Read

Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.

J Pediatr Neurosci 2018 Jul-Sep;13(3):362-365

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation and manifest in different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement with or without ketonuria. Read More

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http://dx.doi.org/10.4103/JPN.JPN_21_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144612PMC
October 2018
2 Reads

Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy.

J Pediatr Neurosci 2018 Jul-Sep;13(3):349-351

Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.

Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later on had loss of developmental milestones after acute episode of illness at 12 months of age. The magnetic resonance imaging of brain revealed widened Sylvian fissure, hyperintensities in bilateral globus pallidus, and bilateral frontoparietal atrophy along with white matter loss. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/3/349
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http://dx.doi.org/10.4103/JPN.JPN_79_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144596PMC
October 2018
4 Reads

Adequate vitamin B12 and riboflavin status from menus alone in residential care facilities in the Lower Mainland, British Columbia.

Appl Physiol Nutr Metab 2018 Sep 24. Epub 2018 Sep 24.

South Australian Health and Medical Research Institute, 367695, Healthy Mothers, Babies and Children Theme, Adelaide, South Australia, Australia ;

Older adults have potential increased risk of nutrient deficiencies due to age-related decreased dietary intake and malabsorption; it is important to ensure nutrient needs are met to avoid adverse health outcomes. B vitamins are of particular interest: vitamin B12 deficiency can cause irreversible neurodegeneration; there is mandatory folic acid fortification in Canada; and suboptimal riboflavin status has been reported among older adults in the United Kingdom. In this exploratory secondary analysis study we assessed vitamin B12 and riboflavin biochemical status (via microparticle enzyme immunoassay and erythrocyte glutathione reductase activity coefficient (EGRac), respectively), and the vitamin B12, riboflavin, and folate content of menus served to a convenience sample of older adults (≥65 years) from five residential care facilities within the Lower Mainland of British Columbia, Canada. Read More

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http://dx.doi.org/10.1139/apnm-2018-0459DOI Listing
September 2018
3 Reads

ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

Ann Neurol 2018 Nov 19;84(5):659-673. Epub 2018 Oct 19.

Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.

Objective: Riboflavin-responsive multiple acyl-coenzyme A dehydrogenation deficiency (RR-MADD) is an inherited fatty acid metabolism disorder mainly caused by genetic defects in electron transfer flavoprotein-ubiquinone oxidoreductase (ETF:QO). The variant ETF:QO protein folding deficiency, which can be corrected by therapeutic dosage of riboflavin supplement, has been identified in HEK-293 cells and is believed to be the molecular mechanism of this disease. To verify this hypothesis in vivo, we generated Etfdh knockin (KI) mice. Read More

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http://dx.doi.org/10.1002/ana.25338DOI Listing
November 2018
7 Reads
9.980 Impact Factor

Risk of nutritional deficiencies for dogs on a weight loss plan.

J Small Anim Pract 2018 Nov 16;59(11):695-703. Epub 2018 Aug 16.

North Carolina State University College of Veterinary Medicine, Raleigh, North Carolina, 27606, USA.

Objectives: To determine how general practice veterinarians make weight loss recommendations for dogs and if nutrients become deficient when following these recommendations.

Materials And Methods: A questionnaire of general practice veterinarians was conducted to characterise weight loss recommendations made to clients. Using this data, progressive levels of caloric restriction were applied to top-selling commercial non-therapeutic adult maintenance diets and non-therapeutic weight management diets. Read More

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http://doi.wiley.com/10.1111/jsap.12913
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http://dx.doi.org/10.1111/jsap.12913DOI Listing
November 2018
9 Reads

A reexamination on the deficiency of riboflavin accumulation in Malpighian tubules in larval translucent mutants of the silkworm, Bombyx mori.

Genetica 2018 Oct 9;146(4-5):425-431. Epub 2018 Aug 9.

Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan.

A variety of insects accumulate high contents of riboflavin (vitamin B) in their Malpighian tubules (MTs). Although this process is known to be genetically controlled, the mechanism is not known. In the 1940s and the 1950s, several studies showed that riboflavin contents were low in the MTs of some Bombyx mori (silkworm) mutants with translucent larval skin mutations (e. Read More

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http://dx.doi.org/10.1007/s10709-018-0034-yDOI Listing
October 2018
11 Reads

Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Rev Neurol (Paris) 2018 Dec 30;174(10):747-750. Epub 2018 Jul 30.

Department of neurology, Raymond-Poincaré hospital, Garches, and Inserm U1179 Versailles Saint-Quentin-en-Yvelines university, 78180 Montigny-le-Bretonneux, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurol.2017.12.004DOI Listing
December 2018

Projected effectiveness of mandatory industrial fortification of wheat flour, milk, and edible oil with multiple micronutrients among Mongolian adults.

PLoS One 2018 2;13(8):e0201230. Epub 2018 Aug 2.

Department of Nutrition, Harvard University T.H. Chan School of Public Health, Boston, Massachusetts, United States of America.

Industrial fortification of wheat flour is a potentially effective strategy for addressing micronutrient deficiencies in Mongolia, given its ubiquitous consumption and centralized production. However, Mongolia has not mandated fortification of any foods except for salt with iodine. This study modeled the effectiveness and safety of mandatory industrial fortification of wheat flour alone and in combination with edible oil and milk in reducing the prevalence of multiple micronutrient intake deficiencies among healthy non-pregnant adults in Mongolia. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201230PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071971PMC
August 2018
14 Reads

[Presentation of a medical and nutritional study of the Spanish Armed Forces of 1958 conducted by the Interdepartamental Committee on Nutrition for National Defense of the United States of America].

Nutr Hosp 2018 Jun 4;35(Spec No5):91-98. Epub 2018 Jun 4.

.

Introduction: studies of the nutritional and epidemiologic transition in Spain do not seem to have used the report "Spain: Nutrition Survey of the Armed Forces" (SNSAF)" conducted in 1958 by the Interdepartamental Committee on Nutrition for National Defence (ICNND) of the United States of America.

Objective: this article provides an introduction to this report with an assessment of its methodology and results.

Materials And Methods: examine the objectives, approach and process of implementation of the survey conducted on a sample of 10,727 Spanish soldiers from April to June in 1958. Read More

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http://dx.doi.org/10.20960/nh.2090DOI Listing
June 2018
1 Read

Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.

Neuromuscul Disord 2018 Sep 31;28(9):787-790. Epub 2018 May 31.

Division of Pediatric Metabolic Diseases, Department of Pediatrics, Hacettepe University, Turkey.

Inherited defects of vitamin B (riboflavin) metabolism may cause different phenotypes with common biochemical markers of multiple acyl-CoA dehydrogenase deficiency (MADD). Most recently, mutations in FLAD1, which encodes flavin adenine dinucleotide (FAD) synthase, has been implicated in MADD with combined respiratory chain deficiency in nine patients. Here, we describe two siblings with FAD synthase deficiency, who were diagnosed post-mortem upon suspicion of this newly-described disease. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.05.009DOI Listing
September 2018
2 Reads

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet J Rare Dis 2018 Jul 19;13(1):120. Epub 2018 Jul 19.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy.

Results: We describe the genetic, clinical and biochemical findings in a cohort of 70 patients, of whom 29 previously unpublished. Read More

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http://dx.doi.org/10.1186/s13023-018-0784-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053715PMC
July 2018
28 Reads

Novel mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Mol Genet Metab Rep 2018 Sep 11;16:15-19. Epub 2018 Jun 11.

Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in or . Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2018.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031868PMC
September 2018
5 Reads

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and RFVT3, respectively, are the genetic basis of this disorder, often referred to as riboflavin transporter deficiency types 2 and 3, respectively. We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction. Read More

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018
7 Reads

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

Semin Pediatr Neurol 2018 07 4;26:10-14. Epub 2017 Apr 4.

Division of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.

This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. Read More

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http://dx.doi.org/10.1016/j.spen.2017.03.002DOI Listing
July 2018
15 Reads

Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.

BMJ Case Rep 2018 Jun 27;2018. Epub 2018 Jun 27.

Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.

Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan. Read More

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http://dx.doi.org/10.1136/bcr-2018-224958DOI Listing
June 2018
1 Read

Energy Metabolism Impairment in Migraine.

Curr Med Chem 2018 Jun 22. Epub 2018 Jun 22.

IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, UOC Clinica Neurologica. Italy.

Migraine is a common disabling neurological disorder which is characterised by recurring headache associated with a variety of sensory and autonomic symptoms. The pathophysiology of migraine remains not entirely understood, although many mechanisms involving the central and peripheral nervous system are now becoming clear. In particular, it is widely accepted that migraine is associated with energy metabolic impairment of the brain. Read More

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http://dx.doi.org/10.2174/0929867325666180622154411DOI Listing
June 2018
1 Read

The Nicotiana tabacum ABC transporter NtPDR3 secretes O-methylated coumarins in response to iron deficiency.

J Exp Bot 2018 Aug;69(18):4419-4431

Louvain Institute of Biomolecular Science and Technology, Université catholique de Louvain, Croix du Sud, Louvain-la-Neuve, Belgium.

Although iron is present in large amounts in the soil, its poor solubility means that plants have to use various strategies to facilitate its uptake. In this study, we show that expression of NtPDR3/NtABCG3, a Nicotiana tabacum plasma-membrane ABC transporter in the pleiotropic drug resistance (PDR) subfamily, is strongly induced in the root epidermis under iron deficiency conditions. Prevention of NtPDR3 expression resulted in N. Read More

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https://academic.oup.com/jxb/article/69/18/4419/5034944
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http://dx.doi.org/10.1093/jxb/ery221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093371PMC
August 2018
17 Reads

Malnutrition and skin disease in Far East prisoners-of-war in World War II.

Authors:
D Creamer

Clin Exp Dermatol 2018 Oct 31;43(7):766-769. Epub 2018 May 31.

Department of Dermatology, King's College Hospital, London, UK.

During the Second World War, thousands of captured British and Commonwealth troops were interned in prisoner-of-war (POW) camps in the Far East. Imprisonment was extremely harsh, and prisoners developed multiple pathologies induced by physical hardship, tropical infections and starvation. Immediately after the war, several POW doctors published their clinical experiences, including reports of skin disease caused by malnutrition. Read More

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http://dx.doi.org/10.1111/ced.13637DOI Listing
October 2018
1 Read

Riboflavin Depletion Promotes Tumorigenesis in HEK293T and NIH3T3 Cells by Sustaining Cell Proliferation and Regulating Cell Cycle-Related Gene Transcription.

J Nutr 2018 Jun;148(6):834-843

The Key Laboratory of Molecular Biology for High Cancer Incidence Coastal Chaoshan Area.

Background: Riboflavin is an essential component of the human diet and its derivative cofactors play an established role in oxidative metabolism. Riboflavin deficiency has been linked with various human diseases.

Objective: The objective of this study was to identify whether riboflavin depletion promotes tumorigenesis. Read More

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http://dx.doi.org/10.1093/jn/nxy047DOI Listing
June 2018
1 Read

Severely Impaired Control of Bacterial Infections in a Patient With Cystic Fibrosis Defective in Mucosal-Associated Invariant T Cells.

Chest 2018 May;153(5):e93-e96

Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. Electronic address:

Here we report a unique case of a patient with cystic fibrosis characterized by severely impaired control of bacterial respiratory infections. This patient's susceptibility to such infections was much worse than expected from a cystic fibrosis clinical perspective, and he died at age 22 years despite extensive efforts and massive use of antibiotics. We found that this severe condition was associated with a near-complete deficiency in circulating mucosal-associated invariant T (MAIT) cells as measured at several time points. Read More

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http://dx.doi.org/10.1016/j.chest.2018.01.020DOI Listing

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

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http://dx.doi.org/10.1186/s12920-018-0356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883299PMC
April 2018
4 Reads
1 Citation
2.873 Impact Factor

The role of nutrients in the pathogenesis and treatment of migraine headaches: Review.

Biomed Pharmacother 2018 Jun 22;102:317-325. Epub 2018 Mar 22.

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

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http://dx.doi.org/10.1016/j.biopha.2018.03.059DOI Listing
June 2018
3 Reads
1 Citation
2.020 Impact Factor

Micronutrient intake in elderly living in nursing homes.

Nutr Hosp 2018 Feb 13;35(1):59-64. Epub 2018 Feb 13.

Federal University of Bahia, Brazil.

Objective: The aim of this study was to evaluate the ingestion of micronutrients in elderly living in nursing homes.

Methods: This is a cross-sectional study, conducted with 216 individuals of both sexes, age equal or greater than 60 years, living in nursing homes for elderly in Salvador, Bahia, Brazil. Direct weighing of the food was used to get food intake, and prevalence of inadequacy was obtained using the software Multiple Source Method (MSM) and evaluated by estimated average requirement (EAR). Read More

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http://dx.doi.org/10.20960/nh.1348DOI Listing
February 2018
2 Reads

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

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http://dx.doi.org/10.1186/s12864-018-4568-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836443PMC
March 2018
9 Reads

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

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http://dx.doi.org/10.1016/bs.afnr.2017.11.002DOI Listing

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

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http://dx.doi.org/10.3389/fmed.2018.00016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807665PMC
February 2018
7 Reads

An infant with glutaric aciduria type IIc diagnosed with a novel mutation.

Turk J Pediatr 2017 ;59(3):315-317

Intergen Genetic Center, Ankara, Turkey.

Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Read More

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http://dx.doi.org/10.24953/turkjped.2017.03.013DOI Listing
December 2018
11 Reads

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

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http://dx.doi.org/10.1016/j.jns.2017.11.012DOI Listing
January 2018
8 Reads