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Int J Mol Sci 2020 May 28;21(11). Epub 2020 May 28.

Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital, 8200 Aarhus N, Denmark.

As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with abundant sources of riboflavin-rich dietary products. A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic disturbances or environmental and physiological factors like infections, exercise, diet, aging and pregnancy. Read More

Eur J Nutr 2020 May 26. Epub 2020 May 26.

Key Laboratory of Molecular Biology for High Cancer Incidence Coastal Chaoshan Area, Shantou University Medical College, Shantou, 515041, China.

Purpose: Riboflavin deficiency causes ariboflavinosis, a common nutritional deficiency disease. The purpose of this study is to investigate the effects of riboflavin deficiency on the important internal organs and its potential mechanisms.

Methods: Experiment 1, male F344 rats were randomly assigned to R (normal riboflavin, 6 mg/kg) and R (riboflavin-deficient, 0 mg/kg) groups. Read More

J Nutr 2020 May 20. Epub 2020 May 20.

Department of Food, Nutrition and Health, the University of British Columbia, Vancouver, Canada.

Background: Riboflavin is required for erythropoiesis, which is increased in people with hemoglobinopathies due to increased hemolysis and erythrocyte turnover. Dietary intake and status of riboflavin is poor in Cambodia, where hemoglobinopathies are common.

Objective: We assessed the association between genetic hemoglobin disorders and riboflavin status in women of reproductive age in Cambodia. Read More

Epilepsy Behav Rep 2020 24;14:100357. Epub 2020 Mar 24.

Department of Paediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.

A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication. Incomplete control of seizures was achieved on starting pyridoxine, riboflavin and thiamine. Read More

Res Vet Sci 2020 Aug 1;131:194-205. Epub 2020 May 1.

Institute of Lifecourse and Medical Sciences, University of Liverpool, Leahurst Campus, Chester High Road, Neston, Wirral CH64 7TE, United Kingdom; Institute of Veterinary Science, University of Liverpool, Leahurst Campus, Chester High Road, Neston, Wirral CH64 7TE, United Kingdom. Electronic address:

One option for controlled weight loss for dogs and cats in overweight condition could be to modestly restrict caloric intake using a reduced-energy ('light') maintenance diet, but there is no prior research on the safety and efficacy of such an approach. A prospective observational cohort study was performed in 67 overweight dogs and 17 overweight cats undergoing weight loss using reduced-energy maintenance diets from one manufacturer. Diets were fed at approximately 80% of maintenance energy requirements for ideal bodyweight for a period of 8 weeks. Read More

BMC Genomics 2020 Apr 23;21(1):319. Epub 2020 Apr 23.

Green Chemistry Research Division, Research Institute of Green Science and Technology, Shizuoka University, Ohya 836, Suruga-ku, Shizuoka, Japan.

Background: Ashbya gossypii naturally overproduces riboflavin and has been utilized for industrial riboflavin production. To improve riboflavin production, various approaches have been developed. In this study, to investigate the change in metabolism of a riboflavin-overproducing mutant, namely, the W122032 strain (MT strain) that was isolated by disparity mutagenesis, genomic analysis was carried out. Read More

Front Pediatr 2020 27;8:118. Epub 2020 Mar 27.

Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions. Loss-of-function mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene are associated with MADD. Disease-causing synonymous variants in the gene have not been reported so far. Read More

Biomed Res Int 2020 21;2020:9156359. Epub 2020 Mar 21.

Research Institute of General Surgery, Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China.

Parenteral nutrition (PN) is a life-saving therapy for patients with intestinal failure, but parenteral nutrition-associated liver disease (PNALD) limits its long-term use. The present study is aimed at determining which pathways are altered most notably in a rat model of PNALD. We randomly assigned male Sprague-Dawley (SD) rats into two different groups, whereby they received either enteral nutrition (EN) or PN. Read More

Cochrane Database Syst Rev 2020 04 8;4:CD010205. Epub 2020 Apr 8.

The Hospital for Sick Children, Centre for Global Child Health, Toronto, Canada.

Background: Zinc is a vital micronutrient for humans and is essential for protein synthesis, cell growth, and differentiation. Severe zinc deficiency can lead to slower physical, cognitive and sexual growth, cause skin disorders, decrease immunity, increase incidence of acute illnesses in infants and children and contribute to childhood stunting. By estimation, 17. Read More

World J Clin Cases 2020 Mar;8(5):995-1001

Department of Neurology, Frist Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion. Late-onset MADD with syncope has not been reported previously. Read More

Geohealth 2019 Jul 31;3(7):190-200. Epub 2019 Jul 31.

Department of Environmental Health Harvard T.H. Chan School of Public Health Boston MA USA.

A growing literature has documented that rising concentrations of carbon dioxide in the atmosphere threaten to reduce the iron, zinc, and protein content of staple food crops including rice, wheat, barley, legumes, maize, and potatoes, potentially creating or worsening global nutritional deficiencies for over a billion people worldwide. A recent study extended these previous nutrient analyses to include B vitamins and showed that, in rice alone, the average loss of major B vitamins (thiamin, riboflavin, and folate) was shown to be 17-30% when grown under higher CO. Here, we employ the EAR cut-point method, using estimates of national-level nutrient supplies and requirements, to estimate how B vitamin dietary adequacy may be affected by the CO-induced loss of nutrients from rice only. Read More

Biochim Biophys Acta Proteins Proteom 2020 Jun 19;1868(6):140393. Epub 2020 Feb 19.

Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Departamento de Química e Bioquímica, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal. Electronic address:

Multiple-CoA dehydrogenase deficiency (MADD) is an inborn disorder of fatty acid and amino acid metabolism caused by mutations in the genes encoding for human electron transfer flavoprotein (ETF) and its partner electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO). Albeit a rare disease, extensive newborn screening programs contributed to a wider coverage of MADD genotypes. However, the impact of non-lethal mutations on ETF:QO function remains scarcely understood from a structural perspective. Read More

Int J Neurosci 2020 Mar 9:1-7. Epub 2020 Mar 9.

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, People's Republic of China.

Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD). The late-onset MADD is often muscle involved, presenting with lipid storage myopathy (LSM). The symptoms of LSM were heterogeneous and definite diagnosis of this disease depends on the pathology and gene test. Read More

Eur J Clin Nutr 2020 Feb 14. Epub 2020 Feb 14.

Key Laboratory of Molecular Biology for High Cancer Incidence Coastal Chaoshan Area, Shantou University Medical College, Shantou, 515041, China.

Background: Riboflavin deficiency confers a predisposition for esophageal cancer. The role of plasma riboflavin levels in development and prognosis of individuals with digestive tract inflammation and ulcer (DTIU), digestive tract polyps (DTPs), and ESCC is not well understood.

Methods: We performed a cross-sectional study, including 177 DTIU, 80 DTP, and 324 ESCC cases, to measure the plasma riboflavin levels among the three populations. Read More

Ann Clin Transl Neurol 2020 02 5;7(2):250-253. Epub 2020 Feb 5.

Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière (AP-HP), 47-83 Boulevard de l'Hôpital, 75013, Paris, France.

Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. Read More

Am J Hum Genet 2020 02 30;106(2):256-263. Epub 2020 Jan 30.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address:

We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare homozygous variants in TKFC. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of riboflavin cyclic 4',5'-phosphate (cyclic FMN) through an FMN lyase domain. Read More

J Neurol 2020 May 29;267(5):1414-1419. Epub 2020 Jan 29.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

Multiple acyl-CoA dehydrogenase deficiency, or glutaric aciduria type II, is an autosomal recessive disorder of fatty acid oxidation due to defects in electron transfer flavoprotein (ETF) encoded by ETFA and ETFB, or in electron transfer flavoprotein dehydrogenase (ETFDH) encoded by the ETFDH gene. The disease may present as a severe neonatal onset form and a mild late-onset form which is heterogeneous for the age at onset and clinical presentation. We describe two patients in their seventies, referred for a nonspecific myopathy, which resulted to manifest carriers of ETFDH gene mutation. Read More

BMC Med Genomics 2020 01 29;13(1):12. Epub 2020 Jan 29.

CHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000, Limoges, France.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1,000,000 and the prevalence at birth approximately 1/200,000. The clinical features of this disease are divided into three groups of symptoms linked to a defect in electron transfer flavoprotein (ETF) metabolism. Read More

Nutrients 2020 Jan 16;12(1). Epub 2020 Jan 16.

Department of Pharmaceutical Botany, Faculty of Pharmacy, "Iuliu Hatieganu" University of Medicine and Pharmacy, 23 Gheorghe Marinescu Street, 400337 Cluj-Napoca, Romania.

Obesity is associated with reduced gut microbial diversity and a high rate of micronutrient deficiency. Bariatric surgery, the therapy of choice for severe obesity, produces sustained weight loss and improvements in obesity-related comorbidities. Also, it significantly alters the gut microbiota (GM) composition and function, which might have an important impact on the micronutrient status as GM is able to synthesize certain vitamins, such as riboflavin, folate, B, or vitamin K. Read More

Rocz Panstw Zakl Hig 2019 ;70(4):359-367

Pomeranian Medical University in Szczecin, Department of Human Nutrition and Metabolomics, Broniewskiego str. 24, 71-460 Szczecin, Poland

Background: Celiac disease is an autoimmune disease that affects about 1% of the European population and 0.3–1.3% of the world’s population. Read More

Case Rep Crit Care 2019 21;2019:1598213. Epub 2019 Dec 21.

Intensive Care Unit, Amiens University Medical Center, F-80000 Amiens, France.

Background: Multiple acyl-coA dehydrogenase deficiency (MADD) is a rare, inherited, autosomal-recessive disorder leading to the accumulation of acylcarnitine of all chain lengths. Acute decompensation with cardiac, respiratory or hepatic failure and metabolic abnormalities may be life-threatening.

Case Presentation: A 29-year-old woman presented with severe lactic acidosis associated with intense myalgia and muscle weakness. Read More

J Chem Inf Model 2020 Mar 11;60(3):1368-1375. Epub 2020 Feb 11.

L'Institut de Chimie et Biologie des Membranes et des Nano-Objets (CBMN), Unité Mixte de Recherche (UMR) 5248, Centre National de la Recherche (CNRS), University of Bordeaux, Pessac 33600, France.

Because of its specific physicochemical properties (fluorescence, photosensitizing, and redox reactions), vitamin B2, also called riboflavin (RF), has been generating a lot of interest in the fields of nanotechnology and bioengineering in the last decade. RF, by targeting its riboflavin transporters (RFVTs) overexpressed in some cancers, is particularly used to functionalize nanovectors for anticancer drug delivery. From a physiopathological point of view, an RF deficiency has been implicated in various pathologies, including mendelian diseases. Read More

Respir Med Case Rep 2020 12;29:100983. Epub 2019 Dec 12.

Department of Respiratory Medicine, Cork University Hospital, Wilton, Cork, Ireland.

Background: We describe this case of a young gentleman presenting with acute dyspnoea on a background history of known, long-standing asthma. His dramatic presentation, notable for profound hypoxia and cyanosis, led to an unexpected additional diagnosis of type one congenital methaemoglobinaemia.

Case Presentation: A 26-year-old Irish gentleman was transferred urgently to the emergency department resuscitation room with marked cyanosis and tachypnoea. Read More

Adv Exp Med Biol 2019 ;1185:575-579

Department of Biomedical Engineering, University of Houston, Houston, TX, USA.

The retina and RPE together constitute the most metabolically active ecosystem in the body, harboring high levels of flavins. Although diabetic patients have been reported to suffer from riboflavin deficiency and use of flavins as nutritional interventions to combat diabetic insult on other tissues have been investigated, such attempts have never been tested for the retina to avoid diabetic retinopathy. Furthermore, the role of flavins in pathophysiology of the retina and RPE has mostly been overlooked. Read More

Food Res Int 2020 Jan 31;127:108735. Epub 2019 Oct 31.

Centro de Referencia para Lactobacilos (CERELA) - CONICET, Chacabuco 145 (4000), San Miguel de Tucumán, Argentina. Electronic address:

In recent years, quinoa (Chenopodium quinoa Willd), an ancestral crop of the Andean region of South America, has gained worldwide attention due to its high nutritional value. This grain is a good source of several vitamins and minerals; however, their bioavailability is decreased by the presence of antinutritional factors such as phytic acid. These compounds can be reduced using lactic acid bacteria (LAB), that have a GRAS (Generally Recognized as Safe) status and have traditionally been associated with food fermentation due to their biosynthetic capacity and metabolic versatility. Read More

J Acad Nutr Diet 2020 May 23;120(5):885-892. Epub 2019 Dec 23.

Background: Riboflavin, vitamin B-6, and vitamin B-12 are key players in one-carbon metabolism as enzymatic cofactors, and deficiency of these nutrients may influence reproductive outcomes possibly through affecting reproductive hormones.

Objective: The goal was to investigate associations between dietary intakes of riboflavin, vitamin B-6, and vitamin B-12, and menstrual function among premenopausal women.

Design: This was a secondary analysis of a prospective cohort study conducted at the University at Buffalo during 2005 to 2007. Read More

J Child Neurol 2020 Mar 23;35(4):283-290. Epub 2019 Dec 23.

Division of Audiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis.

Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey.

Results: The average diagnostic delay was 27. Read More

BMC Neurol 2019 Dec 18;19(1):330. Epub 2019 Dec 18.

Department of Neurology, The Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with two affected siblings with late-onset riboflavin-responsive MADD due to a homozygous c.250G > A EFTDH mutation and review the genetic epidemiology of the c. Read More

Int J Mol Sci 2019 Dec 9;20(24). Epub 2019 Dec 9.

Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, via Orabona 4-, 70126 Bari, Italy.

FAD synthase (FADS, or FMN:ATP adenylyl transferase) coded by the FLAD1 gene is the last enzyme in the pathway of FAD synthesis. The mitochondrial isoform 1 and the cytosolic isoform 2 are characterized by the following two domains: the C-terminal PAPS domain (FADSy) performing FAD synthesis and pyrophosphorolysis; the N-terminal molybdopterin-binding domain (FADHy) performing a Co/K-dependent FAD hydrolysis. Mutations in FLAD1 gene are responsible for riboflavin responsive and non-responsive multiple acyl-CoA dehydrogenases and combined respiratory chain deficiency. Read More

Pediatr Neurol 2020 Feb 6;103:91. Epub 2019 Dec 6.

Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.

Am J Cancer Res 2019 1;9(11):2469-2481. Epub 2019 Nov 1.

Key Laboratory of Molecular Biology for High Cancer Incidence Coastal Chaoshan Area, Medical College of Shantou University Shantou 515041, Guangdong, China.

Epidemiological studies in high-incidence areas of esophageal cancer in China suggest that environmental carcinogen N-nitrosomethylbenzylamine (NMBA) and riboflavin (RBF) deficiency may be the main risk factors for esophageal cancer. However, it is not clear that the combination induces cancer. Here, experiment (Exp) 1 evaluated the effects of NMBA and RBF deficiency individually or in combination on esophageal tumorigenesis. Read More

Nutrients 2019 Nov 28;11(12). Epub 2019 Nov 28.

The Liggins Institute, The University of Auckland, Auckland 1023, New Zealand.

B-vitamin deficiency is common in ageing populations either due to altered dietary habits or altered digestive and metabolic functions. There is limited data on the acute circulating concentrations of B-vitamins and their various forms (vitamers), following ingestion of realistic meals. This study compared the acute circulating B-vitamin and vitamer responses to either an energy-dense (ED) or a nutrient-dense (ND) breakfast meal, consumed in a randomized cross-over sequence, in older and younger adults ( = 15 and 15, aged 67. Read More

Vopr Pitan 2019;88(4):66-74. Epub 2019 Jul 15.

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

Inadequate intake of vitamins, noted in children with obesity, reduces the immune system activity, contributes to the metabolic disorders aggravation and may result in comorbidity. of the work was to study sufficiency with vitamins and carotenoids of children with obesity. Examination of vitamin D, B, C, A, E and β-carotene status in 50 children (male 36. Read More

Pathol Res Pract 2019 Dec 23;215(12):152702. Epub 2019 Oct 23.

Department of Pathology, Affiliated Tumor Hospital of Nantong University, Nantong 226361, Jiangsu, China. Electronic address:

The ETFDH (electron transfer flavoprotein dehydrogenase) gene mutations are reported to be a major cause of riboflavin-responsive multiple acyl-coenzyme A dehydrogenation deficiency (MADD). However, the role of ETFDH in the prognosis of hepatocellular carcinoma (HCC) remains unclear. The aim of this study was to investigate the expression of ETFDH in HCC. Read More

Int J Vitam Nutr Res 2019 Oct 28:1-8. Epub 2019 Oct 28.

Department of Nutrition and Food Hygiene, Institute of Environmental and Operational Medicine, Tianjin, PR China.

Riboflavin deficiency led to lower blood cholesterol level and higher content of hepatic cholesterol in rats and the mechanisms are not clarified yet. We hypothesized that riboflavin deficiency might alter cholesterol homeostasis via apolipoprotein B100, one of the important proteins in cholesterol transport. To test this hypothesis, HepG2 cells were cultured in riboflavin-deficient media for 4 days to develop riboflavin deficiency. Read More

Animal 2020 Apr 18;14(4):716-724. Epub 2019 Oct 18.

Research Institute of Organic Agriculture (FiBL), Ackerstrasse 113, 5070 Frick, Switzerland.

Riboflavin (vitamin B2) is essential for monogastric animals. It is mainly produced by recombinant microorganisms (Candida famata, Bacillus subtilis and Ashbya gossypii). The availability of genetically modified organism (GMO)-free riboflavin, obligatory in European organic agriculture, is a major issue. Read More

Curr Dev Nutr 2019 Sep 21;3(9):nzz075. Epub 2019 Jun 21.

The Boden Institute of Obesity, Nutrition, Exercise & Eating Disorders, Charles Perkins Centre, Faculty of Medicine, University of Sydney, New South Wales 2006, Australia.

Vitamin deficiencies remain major etiological factors in the global burden of disease, especially in low- and middle-income countries. The purpose of this state-of-the-art review was to update current information on deficiencies of vitamins and public health approaches to addressing them. Some stages of life present a higher risk of deficiency than others: risks are higher in pregnant women, children (from conception to young childhood), adolescents, the elderly, and all of the over 800 million people globally who are undernourished. Read More

BMJ Case Rep 2019 Sep 30;12(9). Epub 2019 Sep 30.

Department of Medicine, Mount Auburn Hospital, Cambridge, Massachusetts, USA.

The case involves a 62-year-old female native of the USA with a history of bipolar disorder and chronic obstructive pulmonary disease who presented with intractable diarrhoea. Prior to the index admission, she was admitted to the intensive care unit and required pericardiocentesis for an idiopathic pericardial effusion with tamponade physiology. Following discharge, she suffered intractable diarrhoea and represented for medical evaluation. Read More

Int J Mol Sci 2019 Sep 8;20(18). Epub 2019 Sep 8.

Department DiBEST (Biologia, Ecologia, Scienze della Terra) Unit of Biochemistry and Molecular Biotechnology, University of Calabria, Via P. Bucci 4C, 87036 Arcavacata di Rende, Italy.

Background: the gene encodes for the riboflavin transporter 2 (RFVT2). This transporter is ubiquitously expressed. It mediates the transport of Riboflavin across cell membranes. Read More

J Pediatr Endocrinol Metab 2019 Oct;32(10):1181-1185

Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.

Mitochondrial acyl-CoA dehydrogenase 9 (ACAD9) deficiency is one of the common causes of respiratory chain complex I deficiency, which is characterized by cardiomyopathy, lactic acidemia, and muscle weakness. Infantile cardiomyopathy is the most common phenotype and is usually lethal by the age of 5 years. Riboflavin treatment is known to be effective in ~65% of the patients; however, the remaining are unresponsive to riboflavin and are in need of additional treatment measures. Read More

Nutrients 2019 Aug 19;11(8). Epub 2019 Aug 19.

Department of Animal Science, McGill University, Ste-Anne-de-Bellevue, QC H9X 3V9, Canada.

As a staple food and dense source of nutrients, milk and alternatives play an important role in nutrient adequacy. The aims of this study were to quantify the consumption of milk and alternatives within Canadian self-selected diets and determine their contribution to intakes of nutrients and energy. First, 24-h dietary recalls from the 2015 Canadian Community Health Survey-Nutrition were used to assess 1-d food and nutrient intakes among Canadian adults ≥19 y (n = 13,616). Read More

Curr Mol Med 2019 ;19(7):487-493

Biosystems and Integrative Sciences Institute, Faculdade de Ciencias, Universidade de Lisboa, and Departamento de Quimica e Bioquimica, Faculdade de Ciencias, 1749-016 Lisboa, Portugal.

Background: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with broad clinical phenotypes and variable evolution. This inborn error of metabolism is caused by mutations in the ETFA, ETFB or ETFDH genes, which encode for the mitochondrial ETF and ETF:QO proteins. A considerable group of patients has been described to respond positively to riboflavin oral supplementation, which constitutes the prototypic treatment for the pathology. Read More

J Med Case Rep 2019 Aug 12;13(1):250. Epub 2019 Aug 12.

Department of Pediatrics and Adolescent Medicine, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.

Background: Various antiepileptic drugs can potentially cause psychiatric side effects in patients with epilepsy, but the precise mechanism of these actions remains unknown. In recent years, the common polymorphism C677T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has attracted attention for its role in the onset of psychiatric diseases. MTHFR and several vitamins (as cofactors) are crucial for remethylation of homocysteine via folate and homocysteine metabolism. Read More

Mol Genet Genomic Med 2019 09 8;7(9):e915. Epub 2019 Aug 8.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH. Recently, riboflavin transporter genes and the mitochondrial FAD transporter gene have also been associated with MADD-like phenotype.

Methods: We present a case of MADD identified by newborn biochemical screening in a full-term infant suggestive of both medium-chain acyl-CoA dehydrogenase deficiency and MADD. Read More

Pediatr Neurol 2019 10 28;99:69-75. Epub 2019 Jun 28.

Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.

Background: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical phenotypes. In this article, we describe 25 patients with MADD deficiency and present the clinical and laboratory characteristics and diagnostic challenges associated with riboflavin-responsive MADD deficiency.

Methods: Hospital records of patients with biallelic mutations in ETFA, ETFB, or ETFDH genes diagnosed in a single center were analyzed retrospectively. Read More

J Nutr 2019 Nov;149(11):1952-1959

Department of Food, Nutrition, and Health, University of British Columbia, Vancouver, British Columbia, Canada.

Background: Riboflavin is required for several redox reactions. Clinical riboflavin deficiency occurs mainly in low-income countries, where it is associated with anemia. The functional significance of suboptimal riboflavin status in different populations and its role in anemia is not well understood. Read More

Vopr Pitan 2019;88(3):78-83. Epub 2019 May 20.

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

Insufficiency or deficiency of some micronutrients may be additional modifying factors that influence the pathogenesis of the disease and the effectiveness of standard pharmacotherapy. of the study - to evaluate the level of magnesium and vitamin B in blood serum of patients with bronchial asthma and obesity in order to develop methods for individual correction of deficiency. . Read More

JIMD Rep 2019 Mar 14;46(1):79-84. Epub 2019 Mar 14.

Copenhagen Neuromuscular Center, Department of Neurology Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen Denmark.

We investigated the in vivo skeletal muscle metabolism in patients with multiple acyl-CoA dehydrogenase deficiency (MADD) during exercise, and the effect of a glucose infusion. Two adults with MADD on riboflavin and l-carnitine treatment and 10 healthy controls performed an incremental exercise test measuring maximal oxidative capacity (VO) and a submaximal exercise test (≤1 hour) on a cycle ergometer. During submaximal exercise, we studied fat and carbohydrate oxidation, using stable isotope tracer methodology and indirect calorimetry. Read More

Asia Pac J Clin Nutr 2019 ;28(2):285-299

Department of Family Medicine, Chung-ang University Medical Center, Chung-ang University College of Medicine, Seoul, Republic of Korea.

Background And Objectives: Metabolic syndrome is a leading global public health concern. Nutritional approaches are important for preventing and managing cardiometabolic risks, including metabolic syndrome. The aim of this study was to examine the potential association between riboflavin intake and cardiometabolic risks according to sex among Koreans. Read More