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Vopr Pitan 2022 14;91(2):58-71. Epub 2022 Mar 14.

Federal Research Centre of Nutrition, Biotechnology and Food Safety, 109240, Moscow, Russian Federation.

Insufficient vitamin content in the diet is a risk factor for the development of various diseases and their progression, and drug therapy can also contribute to the development of a deficiency of these micronutrients. Data on vitamin sufficiency of patients with type 2 diabetes mellitus (T2DM) and diabetic nephropathy (DN) are needed to develop measures to improve it. of the research was to compare vitamin status of patients with T2DM without DN and those with T2DM complicated by nephropathy by assessing vitamin blood level and urinary excretion. Read More

J Anim Physiol Anim Nutr (Berl) 2022 May 9. Epub 2022 May 9.

Hunan Provincial Key Laboratory of Animal Intestinal Function and Regulation, Hunan International Joint Laboratory of Animal Intestinal Ecology and Health, Laboratory of Animal Nutrition and Human Health, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.

Riboflavin is a water-soluble vitamin involved in the metabolism of protein, fats and carbohydrates as a coenzyme. Pigs, mainly weaned piglets, are prone to riboflavin deficiency. Therefore, this study devoted to explore the effects of riboflavin on intestinal development and function of weaned piglets. Read More

Eur J Nutr 2022 May 9. Epub 2022 May 9.

Department of Nutrition, Institute for Global Nutrition, University of California, Davis, CA, USA.

Purpose: To assess the effects of intervention with a daily multiple micronutrient powder (MNP) on thiamine, riboflavin, folate, and B status among young Laotian children.

Methods: Children (n = 1704) aged 6-23 mo, participating in a double-blind placebo-controlled randomized trial were individually randomized to receive daily either MNP (containing 0.5 mg of thiamine, 0. Read More

J Int Adv Otol 2022 Mar;18(2):192-195

Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, University of São Paulo Ribeirão Preto Medical School, Clinical Hospital, São Paulo, Brazil.

The Brown-Vialetto-Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then. Hearing loss is the most common symptom of the syndrome, as most individuals have it through the development of the disease. Read More

Public Health Nutr 2022 Apr 8:1-27. Epub 2022 Apr 8.

School of Nutrition and Dietetics, University of Antioquia (Universidad de Antioquia), Colombia.

Objective: To validate a Food Diversity Questionnaire that identifies the prevalence of the risk of deficiency in the intake of 11 micronutrients.

Design: The Food Diversity Questionnaire paper form, an online application for data entry and handling, was designed and compared with the 24-hour recall as a reference method. All data were processed in PC-SIDE v1 software. Read More

Clin Nutr 2022 Feb 26. Epub 2022 Feb 26.

Departamento de Medicina, Universidad Complutense de Madrid, Nutrition Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Electronic address:

Background: Trace elements and vitamins, named together micronutrients (MNs), are essential for human metabolism. Recent research has shown the importance of MNs in common pathologies, with significant deficiencies impacting the outcome.

Objective: This guideline aims to provide information for daily clinical nutrition practice regarding assessment of MN status, monitoring, and prescription. Read More

Front Neurol 2022 3;13:815523. Epub 2022 Mar 3.

Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation due to deficiency of the mitochondrial electron transfer chain. The late-onset form is characterized by exercise intolerance, muscle weakness, and lipid storage in myofibers. Most MADD patients greatly benefit from riboflavin supplementation. Read More

J Agric Food Chem 2022 Mar 18;70(12):3818-3831. Epub 2022 Mar 18.

School of Food and Biological Engineering, Hefei University of Technology, Hefei 230009, People's Republic of China.

Epidemiological evidence emphasizes that ariboflavinosis can lead to oxidative stress, which in turn may mediate the initiation and progression of liver injury and intestinal inflammation. Although vitamin B has gained worldwide attention for its antioxidant defense, the relationship between B status, oxidative stress, inflammatory response, and intestinal homeostasis remains indistinct. Herein, we developed a B depletion-repletion BALB/c mice model to investigate the ameliorative effects of B bioenriched fermented soymilk (BFS) on ariboflavinosis, accompanied by oxidative stress, inflammation, and gut microbiota modulation in response to B deficiency. Read More

Microorganisms 2022 Feb 19;10(2). Epub 2022 Feb 19.

Biotechnology Department, Mendeleev University of Chemical Technology, 125047 Moscow, Russia.

The health benefits of probiotics are beyond doubt. The positive effects of lactobacilli and bifidobacteria on the function of many body systems have been repeatedly proven by various studies. To completely realize the potential of probiotic microorganisms, the strains should be tested by the greatest combination of characteristics that contribute to the wellness of the host. Read More

Poult Sci 2022 Apr 11;101(4):101559. Epub 2022 Feb 11.

Front Immunol 2021 13;12:810677. Epub 2022 Jan 13.

Department of Critical Care Units, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here, we describe a patient who was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. The diagnosis of glutaric aciduria type IIC, a IEM, was confirmed by whole exome sequencing. Read More

Animal 2022 Jan 6;16(1):100433. Epub 2022 Jan 6.

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

Data from breeder hens and chicks are particularly critical for the development of vitamin B2 recommendations for organic poultry. To test safe thresholds of supplementation, 100 breeder hens (Hubbard JA 57 K) and ten cockerels were allocated to ten housing groups, with each receiving supplementation of either 4.0 (treatment CON) or 2. Read More

An Pediatr (Engl Ed) 2022 Jan 3;96(1):8-16. Epub 2022 Jan 3.

Servicio de Farmacia, Hospital San Pedro, Logroño, Spain.

Introduction: Inborn errors of metabolism are a highly heterogeneous group of orphan diseases. Diet therapy and enzyme and coenzyme replacement are the most frequently used treatment. There are few patients and published studies about inborn errors of metabolism. Read More

BMJ Case Rep 2022 Jan 4;15(1). Epub 2022 Jan 4.

Neonatology, Rainbow Children's Hospital, Hyderabad, Telangana, India.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia. Read More

Elife 2021 12 24;10. Epub 2021 Dec 24.

MIVEGEC (Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle), Univ. Montpellier (UM) - Centre National de la Recherche Scientifique (CNRS) - Institut pour la Recherche et le Développement (IRD), Montpellier, France.

Many animals are dependent on microbial partners that provide essential nutrients lacking from their diet. Ticks, whose diet consists exclusively on vertebrate blood, rely on maternally inherited bacterial symbionts to supply B vitamins. While previously studied tick species consistently harbor a single lineage of those nutritional symbionts, we evidence here that the invasive tick harbors a unique dual-partner nutritional system between an ancestral symbiont, , and a more recently acquired symbiont, . Read More

J Alzheimers Dis 2022 ;85(2):829-836

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

Background: Alzheimer's disease (AD) is a chronic and fatal neurodegenerative disease; accumulating evidence suggests that vitamin deficiency is associated with the risk of AD. However, studies attempting to elucidate the relationship between vitamins and AD varied widely.

Objective: This study aimed to investigate the relationship between serum vitamin levels and AD in a cohort of the Chinese population. Read More

Nutrients 2021 Nov 16;13(11). Epub 2021 Nov 16.

Human and Animal Physiology, Wageningen University and Research, P.O. Box 338, 6700 AH Wageningen, The Netherlands.

High-fitness individuals have been suggested to be at risk of a poor vitamin B2 (riboflavin) status due to a potentially higher vitamin B2 demand, as measured by the erythrocyte glutathione reductase (EGR) activation coefficient (EGRAC). Longer-term exercise interventions have been shown to result in a lower vitamin B2 status, but studies are contradictory. Short-term exercise effects potentially contribute to discrepancies between studies but have only been tested in limited study populations. Read More

Front Neurol 2021 8;12:747360. Epub 2021 Nov 8.

Department of Neurology, Second Xiangya Hospital, Central South University, Changsha, China.

Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients. Read More

Hum Genet 2022 Jan 19;141(1):81-99. Epub 2021 Nov 19.

Genetic and Metabolic Department, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.

The uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5'-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transporters are involved in transporting various solutes across the blood-brain barrier, blood-cerebrospinal fluid barrier, astrocytes, neurons, and other brain cell types including oligodendrocytes and microglial cells. Read More

Eur J Hum Genet 2021 Nov 12. Epub 2021 Nov 12.

Genetic and Developmental Medicine Clinic, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Mitochondrial flavin adenine dinucleotide (FAD) transporter deficiencies are new entities recently reported to cause a neuro-myopathic phenotype. We report three patients from two unrelated families who presented primarily with hypoketotic hypoglycemia. They all had acylcarnitine profiles suggestive of multiple acyl-CoA dehydrogenase deficiency (MADD) with negative next-generation sequencing of electron-transfer flavoprotein genes (ETFA, ETFB, and ETFDH). Read More

Neuromuscul Disord 2021 10;31(10):978-987

Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. Electronic address:

Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. They can be similar to other childhood muscle diseases such as congenital myopathies, dystrophies, myasthenic syndromes or metabolic myopathies and a muscle biopsy and genetic testing are important in the differential diagnosis. Read More

Hum Mol Genet 2022 Mar;31(7):1115-1129

Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

To observe a long-term prognosis in late-onset multiple acyl-coenzyme-A dehydrogenation deficiency (MADD) patients and to determine whether riboflavin should be administrated in the long-term and high-dosage manner, we studied the clinical, pathological and genetic features of 110 patients with late-onset MADD in a single neuromuscular center. The plasma riboflavin levels and a long-term follow-up study were performed. We showed that fluctuating proximal muscle weakness, exercise intolerance and dramatic responsiveness to riboflavin treatment were essential clinical features for all 110 MADD patients. Read More

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Aug;50(4):454-462

3. Zhejiang Biosan Biochemical Technology Co., Ltd., Hangzhou 310012, China.

To investigate the incidence rate, clinical and gene mutation characteristics of multiple acyl-CoA dehydrogenase deficiency (MADD) in newborns in Zhejiang province. A total of 3 896 789 newborns were screened for MADD using tandem mass spectrometry in Zhejiang Neonatal Screening Center during January 2009 and December 2020. Patients of MADD were confirmed by urine organic acid and electron transferring flavoprotein (or electron transferring flavoprotein dehydrogenase () gene detection. Read More

Nutrients 2021 Oct 16;13(10). Epub 2021 Oct 16.

Department of Exercise Rehabilitation & Welfare, Gachon University, Incheon 21936, Korea.

This study analyzed and evaluated the nutritional intake and nutrition quotient for adults (NQ-A) among 21 disabled national athletes preparing for the Tokyo Paralympic competition. A 24-h recall nutrition survey was conducted on the second day of training and one day of the weekend (holidays) to analyze daily nutritional intake. Dietary information was analyzed using the NQ-A questionnaire, which comprises 21 items. Read More

J Proteome Res 2021 11 14;20(11):5054-5063. Epub 2021 Oct 14.

College of Veterinary Medicine, Yangzhou University, Yangzhou 225009, China.

The classic neurotransmitter γ-aminobutyric acid (GABA) has been shown to shape the activation and function of immune cells. There are four high-affinity GABA transporters (GATs, including GAT-1, GAT-2, GAT-3, and GAT-4) responsible for the transmembrane transport of GABA in mice. To explore the effect of GAT-2 on type 1 helper T (Th1) cells, naïve CD4 T cells were isolated from splenocytes of GAT-2 knockout (KO) and wild-type (WT) mice and cultured for Th1 cell differentiation, and then, metabolomics analysis of Th1 cells was performed via gas chromatography coupled to time-of-flight mass spectrometry added with multivariate analyses. Read More

Plant J 2021 12 27;108(6):1690-1703. Epub 2021 Oct 27.

State Key Laboratory of Rice Biology, China National Rice Research Institute, Hangzhou, 310006, China.

The riboflavin derivatives flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) are essential cofactors for enzymes in multiple cellular processes. Characterizing mutants with impaired riboflavin metabolism can help clarify the role of riboflavin in plant development. Here, we characterized a rice (Oryza sativa) white and lesion-mimic (wll1) mutant, which displays a lesion-mimic phenotype with white leaves, chlorophyll loss, chloroplast defects, excess reactive oxygen species (ROS) accumulation, decreased photosystem protein levels, changes in expression of chloroplast development and photosynthesis genes, and cell death. Read More

J Pediatr Genet 2021 Sep 2;10(3):213-221. Epub 2020 Sep 2.

Apollo Hospital, Navi Mumbai, Maharashtra, India.

Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocephaly. In this article, we presented the clinical characteristics, molecular profile, and outcomes in 29 unrelated families with affected children (30 cases total). The mean age at onset of illness was 10 months (±14. Read More

JIMD Rep 2021 Sep 7;61(1):12-18. Epub 2021 May 7.

Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands.

Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the lowest number of false-positives. In this case report, we describe four unrelated cases with a false-positive NBS result for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Read More

Neuromuscul Disord 2021 11 18;31(11):1194-1198. Epub 2021 Jul 18.

Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea. Electronic address:

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial respiratory chain typically induce MADD. Recently, FLAD1, which encodes flavin adenine dinucleotide synthase, has also been reported as a cause of MADD. Read More