更新于：2024-11-01

Riboflavin Deficiency

核黄素缺乏

更新于：2024-11-01

基本信息

别名

ARIBOFLAVINOSIS、Ariboflavinosis、Ariboflavinosis (disorder)

+ [35]

简介

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)

关联

项与核黄素缺乏相关的药物

Riboflavin Butyrate

核黄素四丁酸酯

靶点-

作用机制-

在研机构

Nipro ES Pharma KK [+1]

原研机构

Mitsubishi Tanabe Pharma Corp.

在研适应症

高胆固醇血症 [+1]

非在研适应症-

最高研发阶段批准上市

首次获批国家/地区

日本

首次获批日期1979-09-28

Riboflavin 5'-Phosphate Sodium

核黄素磷酸钠

靶点-

作用机制-

在研机构

Glaukos Corp. [+3]

原研机构

Fuso Pharmaceutical Industries Ltd.

在研适应症

圆锥角膜 [+1]

非在研适应症

角膜新生血管

最高研发阶段批准上市

首次获批国家/地区

日本

首次获批日期1971-10-20

Flavin adenine dinucleotide sodium

黄素腺嘌呤二核苷酸

靶点-

作用机制-

在研机构

Mylan Pharmaceuticals ULC [+2]

原研机构

TOA Eiyo Ltd.

在研适应症

慢性肝病 [+1]

非在研适应症-

最高研发阶段批准上市

首次获批国家/地区

日本

首次获批日期1956-08-02

项与核黄素缺乏相关的临床试验

NCT05687474 / RecruitingN/AIIT

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.
Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

开始日期2022-09-01

申办/合作机构

Centre Hospitalier Universitaire de Liege

[+5]

NL-OMON48355 / CompletedN/AIIT

Mitochondrial Coupling Efficiency, Respiration and Vitamin B2 status in Untrained and Endurance-trained Young Females - B-MCORE

开始日期2019-10-08

申办/合作机构-

NL-OMON24874 / CompletedN/AIIT

Mitochondrial Coupling Efficiency, Respiration and Vitamin B2 status in Untrained and Endurance-trained Young Females

开始日期2019-09-01

申办/合作机构

Wageningen University and Research

100 项与核黄素缺乏相关的临床结果

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100 项与核黄素缺乏相关的转化医学

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0 项与核黄素缺乏相关的专利（医药）

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797

项与核黄素缺乏相关的文献（医药）

2024-11-01·Free Radical Biology and Medicine

Maternal riboflavin deficiency causes embryonic defects by activating ER stress-induced hepatocyte apoptosis pathway

Article

作者: Xing, Guangnan ; Zhou, Zheng-Kui ; Hou, Shuisheng ; Ji, Zhan-Qing ; Li, Yating ; Li, Zhinan ; Gao, Kexin ; Hou, Shui-Sheng ; Cao, Jun-Ting ; Zhou, Zhengkui ; Zhang, Bo ; Xie, Ming ; Tang, Jing ; Xing, Guang-Nan ; Li, Ya-Ting ; Li, Zhi-Nan ; Cao, Junting ; Gao, Ke-Xin ; Ji, Zhanqing ; Keijer, Jaap

Riboflavin deficiency (RD) induces liver damage, abnormal embryonic development, and high mortality. We hypothesized that the phenotype could be rescued by inhibiting ER stress. The objectives of the present study were to investigate the underlying molecular mechanisms of RD-induced embryonic defects using in vitro and in vivo models. Primary duck embryonic hepatocytes were treated with an ER stress inhibitor (4-PBA) or transfected with CHOP siRNA, and cultured in RD medium and riboflavin-sufficient (CON) medium for 8 days. Laying ducks (n = 20 cages/diet, 1 bird/cage) were fed an RD diet or CON diet for 14 wk, and the eggs were collected for hatching. At day 7 of incubation, the fertilized RD eggs were injected with or without 4-PBA into the yolk. RD decreased cell number and cell viability compared to the CON group, induced oxidative stress and apoptosis in primary duck embryonic hepatocytes. However, after being treated with an ER stress inhibitor (4-PBA) or transfected with CHOP siRNA, the apoptosis rate in RD hepatocytes decreased by 60.6 % and 86.1 %, respectively, being equal to the CON. These results indicated that RD-induced hepatocyte apoptosis is mediated by ER stress and the CHOP pathway. In vivo, RD embryos showed low hatchability, abnormal development, liver damage, ER stress, and apoptosis compared to the CON group. However, 4-PBA administration, as a model of ER stress inhibition, substantially restored embryonic development and alleviated liver damage in the RD group, including ER stress and apoptosis. Notably, hatchability in the RD group increased from 21.7 % to 72.7 % after 4-PBA treatment, though it remained less than the CON group (87.7 %). These results implicated ER stress-CHOP-apoptosis pathway as molecular mechanisms underlying RD-induced abnormal embryonic development and death, this target with potential for therapy or intervention.

2024-10-18·NPJ biofilms and microbiomes

Riboflavin for women's health and emerging microbiome strategies.

Review

作者: Verhoeven, Veronique ; Ahannach, Sarah ; Dricot, Caroline E M K ; Erreygers, Isabel ; Spacova, Irina ; Lebeer, Sarah ; Cauwenberghs, Eline ; De Paz, Jocelyn

Riboflavin (vitamin B2) is an essential water-soluble vitamin that serves as a precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). FMN and FAD are coenzymes involved in key enzymatic reactions in energy metabolism, biosynthesis, detoxification and electron scavenging pathways. Riboflavin deficiency is prevalent worldwide and impacts women's health due to riboflavin demands linked to urogenital and reproductive health, hormonal fluctuations during the menstrual cycle, pregnancy, and breastfeeding. Innovative functional foods and nutraceuticals are increasingly developed to meet women's riboflavin needs to supplement dietary sources. An emerging and particularly promising strategy is the administration of riboflavin-producing lactic acid bacteria, combining the health benefits of riboflavin with those of probiotics and in situ riboflavin production. Specific taxa of lactobacilli are of particular interest for women, because of the crucial role of Lactobacillus species in the vagina and the documented health effects of other Lactobacillaceae taxa in the gut and on the skin. In this narrative review, we synthesize the underlying molecular mechanisms and clinical benefits of riboflavin intake for women's health, and evaluate the synergistic potential of riboflavin-producing lactobacilli and other microbiota.

2024-08-01·Molecular Genetics and Metabolism

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia

Article

作者: Summers, Kim M ; Smith, Sally ; Inwood, Anita ; McWhinney, Avis ; Demetriou, Kalliope ; Spicer, Janette ; Swenson, Rebecca ; Phillips, Liza ; Espley, Brayden ; Atthow, Catherine ; McGill, James J ; Coman, David ; Wilgen, Urs ; Robertson, Thomas ; Lipke, Michelle ; Ewing, Adam D ; Snowdon, Brianna ; Nisbet, Janelle

Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin supplementation. GAII has been considered an autosomal recessive condition caused by pathogenic variants in the gene encoding electron-transfer flavoprotein ubiquinone-oxidoreductase (ETFDH) or in the genes encoding electron-transfer flavoprotein subunits A and B (ETFA and ETFB respectively). Variants in genes involved in riboflavin metabolism have also been reported. However, in some patients, molecular analysis has failed to reveal diagnostic molecular results. In this study, we report the outcome of molecular analysis in 28 Australian patients across the lifespan, 10 paediatric and 18 adult, who had a diagnosis of glutaric aciduria type II based on both clinical and biochemical parameters. Whole genome sequencing was performed on 26 of the patients and two neonatal onset patients had targeted sequencing of candidate genes. The two patients who had targeted sequencing had biallelic pathogenic variants (in ETFA and ETFDH). None of the 26 patients whose whole genome was sequenced had biallelic variants in any of the primary candidate genes. Interestingly, nine of these patients (34.6%) had a monoallelic pathogenic or likely pathogenic variant in a single primary candidate gene and one patient (3.9%) had a monoallelic pathogenic or likely pathogenic variant in two separate genes within the same pathway. The frequencies of the damaging variants within ETFDH and FAD transporter gene SLC25A32 were significantly higher than expected when compared to the corresponding allele frequencies in the general population. The remaining 16 patients (61.5%) had no pathogenic or likely pathogenic variants in the candidate genes. Ten (56%) of the 18 adult patients were taking the selective serotonin reuptake inhibitor antidepressant sertraline, which has been shown to produce a GAII phenotype, and another two adults (11%) were taking a serotonin-norepinephrine reuptake inhibitor antidepressant, venlafaxine or duloxetine, which have a mechanism of action overlapping that of sertraline. Riboflavin deficiency can also mimic both the clinical and biochemical phenotype of GAII. Several patients on these antidepressants showed an initial response to riboflavin but then that response waned. These results suggest that the GAII phenotype can result from a complex interaction between monoallelic variants and the cellular environment. Whole genome or targeted gene panel analysis may not provide a clear molecular diagnosis.