keyword
https://read.qxmd.com/read/38354724/efficacy-and-tolerance-of-oral-versus-parenteral-cyanocobalamin-supplement-in-hypocobalaminaemic-dogs-with-chronic-enteropathy-a-controlled-randomised-open-label-trial
#21
JOURNAL ARTICLE
C Dor, S Nixon, S Salavati Schmitz, J Bazelle, P Černá, S Kilpatrick, N D Harvey, M Dunning
OBJECTIVES: Determine comparative tolerance of daily oral and weekly parenteral cobalamin supplementation, in hypocobalaminaemic dogs with chronic enteropathy. Determine whether oral is as effective as parenteral supplementation at achieving eucobalaminaemia, in hypocobalaminaemic dogs with protein-losing enteropathy, severe hypocobalaminaemia or high canine inflammatory bowel disease activity index at inclusion. MATERIALS AND METHODS: Thirty-seven client-owned dogs with hypocobalaminaemia and clinical signs of chronic enteropathy were prospectively enrolled in three UK referral centres...
February 14, 2024: Journal of Small Animal Practice
https://read.qxmd.com/read/38345966/clinical-and-molecular-genetic-analysis-with-methylmalonic-acidemia-combined-with-homocystinuria
#22
JOURNAL ARTICLE
Xinhui Gan, Yanhua Guo, Jie Shen, Yan Zhao, Fangfang Zhang, Chunmei Yu
BACKGROUND: Based on research, c.609G>A (p.W203X) is a universal mutation site for MMACHC in methylmalonic acidemia (MMA) combined with homocystinuria, cblC type (cblC disease), and c.467G>A (p.G156D) mutation in families with such disease have not yet been reported. To conduct clinical and molecular genetic analysis of a family with cblC disease. METHODS: This work followed the Declaration of Helsinki. All testing methods were performed under the informed consent of our children patients' parents...
February 1, 2024: Clinical Laboratory
https://read.qxmd.com/read/38337663/kinetics-of-cellular-cobalamin-uptake-and-conversion-comparison-of-aquo-hydroxocobalamin-to-cyanocobalamin
#23
JOURNAL ARTICLE
Sergey N Fedosov, Ebba Nexo, Christian W Heegaard
Cyanocobalamin (CNCbl) and aquo/hydroxocobalamin (HOCbl) are the forms of vitamin B12 that are most commonly used for supplementation. They are both converted to methylcobalamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl), which metabolize homocysteine and methylmalonic acid, respectively. Here, we compare the kinetics of uptake and the intracellular transformations of radiolabeled CNCbl vs. HOCbl in HeLa cells. More HOCbl was accumulated over 4-48 h, but further extrapolation indicated similar uptake (>90%) for both vitamin forms...
January 27, 2024: Nutrients
https://read.qxmd.com/read/38330435/metabolic-and-environmental-biomarkers-in-mild-cognitive-impairment-and-dementia-an-exploratory-study
#24
JOURNAL ARTICLE
Abigail C Lyon, Carol F Lippa, Arnold R Eiser
Objective: To determine the frequency with which suspected pathogenic factors, including metals and metabolites that might contribute to Alzheimer's disease (AD), may be found in patients with cognitive impairment through commonly available blood tests. Methods: A variety of serum studies, including metals, ammonia, homocysteine, vitamin B12, folate, thyroid tests, metabolic products, and inflammatory markers, were measured in two cohorts: one meeting mild cognitive impairment (MCI) criteria and the other meeting mild-to-moderate dementia (DE) criteria...
February 8, 2024: J Integr Complement Med
https://read.qxmd.com/read/38323465/associations-of-dietary-antioxidant-intake-with-periodontal-health-among-us-adults-an-exploratory-mediation-analysis-via-mitochondrial-function
#25
JOURNAL ARTICLE
Ruoyan Cao, An Li, Fengxue Geng, Yaping Pan
AIM: To assess the relationship between dietary antioxidant intake and periodontal health in US adults and the potential role of mitochondrial function. MATERIALS AND METHODS: We performed a cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES) 2011-2014. Dietary antioxidant intake was evaluated using three diet-related indices: dietary oxidative balance score (DOBS), dietary total antioxidant capacity (DTAC) of antioxidant vitamins and composite dietary antioxidant index (CDAI)...
February 7, 2024: Journal of Clinical Periodontology
https://read.qxmd.com/read/38317745/successful-adult-domino-living-donor-liver-transplantation-in-methylmalonic-acidemia-case-report
#26
Alicia J Chorley, Turkan Terkivatan, Jeroen de Jonge, Wojtek G Polak, Khe T C Tran, Carsten Unkhoff, Caroline M den Hoed, Margreet A E M Wagenmakers, Jan N M Ijzermans, Robert C Minnee, Markus U Boehnert
BACKGROUND: Liver transplantation (LT) is a therapeutic option in multiple inherited metabolic diseases (IMDs), including methylmalonic acidemia (MMA), as LT reduces the risk of acute metabolic decompensations and long-term complications associated with these diseases. In certain IMDs, such as maple syrup urine disease (MSUD), domino liver transplant (DLT) is an accepted and safe method which expands the donor pool. However, only one adult case of DLT using an MMA donor liver has been reported; outcome and safety are still unknown and questioned...
2024: Translational Gastroenterology and Hepatology
https://read.qxmd.com/read/38280131/the-association-between-methylmalonic-acid-a-biomarker-of-mitochondrial-dysfunction-and-risk-of-prostate-cancer
#27
JOURNAL ARTICLE
Gaoteng Lin, Fangfang Zhan, Lianchao Jin, Guizhong Liu, Wanqing Wei
BACKGROUND: The aim of the study was to investigate the association between methylmalonic acid (MMA), a biomarker of mitochondrial dysfunction, and the risk of prostate cancer (PCa). METHODS AND MATERIALS: The relevant data were collected from the National Health and Nutrition Examination Survey (NHANES). Weighted univariable and multivariable logistic regression analyses were performed to investigate the association between MMA and risk of PCa. A stratified analysis was also carried out...
January 27, 2024: International Urology and Nephrology
https://read.qxmd.com/read/38278366/effect-of-lipid-based-nutrient-supplements-on-micronutrient-status-and-hemoglobin-among-children-with-stunting-secondary-analysis-of-a-randomized-controlled-trial-in-uganda
#28
JOURNAL ARTICLE
Rolland Mutumba, Hannah Pesu, Joseph Mbabazi, Eva Greibe, Ebba Nexo, Mette F Olsen, André Briend, Christian Mølgaard, Kim F Michaelsen, Christian Ritz, Suzanne Filteau, Ezekiel Mupere, Henrik Friis, Benedikte Grenov
BACKGROUND: Micronutrient deficiencies and anemia are widespread among children with stunting. OBJECTIVE: We assessed the effects of lipid-based nutrient supplements (LNS) containing milk protein (MP) and/or whey permeate (WP) on micronutrient status and hemoglobin (Hb) among children with stunting. DESIGN: This was a secondary analysis of a randomized, controlled trial. Children 12-59-month-old with stunting were randomized to LNS (100g/d) with milk or soy protein and WP or maltodextrin for 12 weeks, or no supplement...
January 24, 2024: American Journal of Clinical Nutrition
https://read.qxmd.com/read/38271858/a-novel-automated-multi-cycle-magnetic-solid-phase-extraction-coupled-to-lc-ms-ms-to-study-the-disorders-of-six-functional-b-vitamins-in-patients-with-gastroenterology-and-hyperhomocysteinemia
#29
JOURNAL ARTICLE
Yuting Gu, Fengli Jiang, Xiangmei Yuan, Fan Yu, Yan Liang, Can Xiao, Shuangshuang Yang, Meiwei Zhang, Meixian Ou, Yang Xu, Chen Yu, Jingying Jia, Jie Li, Gangyi Liu, Youli Lu
B vitamins are essential for human life and their disorders can cause a variety of diseases. Solid-phase extraction (SPE) coupled to LC-MS/MS is a preferred technique for determining multiple B vitamins, however, their complexity in real biological matrices makes it hard to achieve satisfactory recovery and accuracy when simultaneous detection. In this study, a novel automated multi-cycle magnetic SPE (MSPE) coupled to the LC-MS/MS method was established using a mixed-mode anion exchange magnetic adsorbent for the simultaneous extraction of six functional B vitamins, including methylmalonic acid, riboflavin, pantothenic acid, 4-pyridoxic acid, folic acid, and 5-methyltetrahydrofolate...
January 19, 2024: Journal of Pharmaceutical and Biomedical Analysis
https://read.qxmd.com/read/38271099/lipodystrophy-in-methylmalonic-acidemia-associated-with-elevated-fgf21-and-abnormal-methylmalonylation
#30
JOURNAL ARTICLE
Irini Manoli, Justin R Sysol, PamelaSara E Head, Madeline W Epping, Oksana Gavrilova, Melissa K Crocker, Jennifer L Sloan, Stefanos A Koutsoukos, Cindy X Wang, Yiouli P Ktena, Sophia Mendelson, Alexandra R Pass, Patricia M Zerfas, Victoria J Hoffmann, Hilary J Vernon, Laura A Fletcher, James C Reynolds, Maria G Tsokos, Constantine A Stratakis, Stephan D Voss, Kong Y Chen, Rebecca J Brown, Ada Hamosh, Gerard T Berry, Xiaoyuan Chen, Jack A Yanovski, Charles P Venditti
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremities fat deposition and paucity of visceral fat, that resembles familial multiple lipomatosis syndrome. To explore brown and white fat physiology in methylmalonic acidemia (MMA), body composition, adipokines and inflammatory markers were assessed in 46 MMA subjects and 99 matched controls...
January 25, 2024: JCI Insight
https://read.qxmd.com/read/38269462/-disease-spectrum-and-pathogenic-genes-of-inherited-metabolic-disorder-in-gansu-province-of-china
#31
JOURNAL ARTICLE
Chuan Zhang, Ling Hui, Bing-Bo Zhou, Lei Zheng, Yu-Pei Wang, Sheng-Ju Hao, Zhen-Qiang DA, Ying Ma, Jin-Xian Guo, Zong-Fu Cao, Xu Ma
OBJECTIVES: To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China. METHODS: A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination...
January 15, 2024: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://read.qxmd.com/read/38252148/foxa2-initiated-transcriptional-activation-of-inhba-induced-by-methylmalonic-acid-promotes-pancreatic-neuroendocrine-neoplasm-progression
#32
JOURNAL ARTICLE
Chunhua Hu, Mujie Ye, Jianan Bai, Pengfei Liu, Feiyu Lu, Jinhao Chen, Yanling Xu, Lijun Yan, Ping Yu, Zequan Xiao, Danyang Gu, Lin Xu, Ye Tian, Qiyun Tang
Pancreatic neuroendocrine neoplasms (PanNENs) are a group of highly heterogeneous neoplasms originating from the endocrine islet cells of the pancreas with characteristic neuroendocrine differentiation, more than 60% of which represent metastases when diagnosis, causing major tumor-related death. Metabolic alterations have been recognized as one of the hallmarks of tumor metastasis, providing attractive therapeutic targets. However, little is known about the molecular mechanism of metabolic changes regulating PanNEN progression...
January 22, 2024: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/38247478/vitamin-b12-supplementation-improves-oocyte-development-by-modulating-mitochondria-and-yolk-protein-in-a-caffeine-ingested-caenorhabditis-elegans-model
#33
JOURNAL ARTICLE
Hyemin Min, Mijin Lee, Sangwon Kang, Yhong-Hee Shim
Vitamin B12 is an essential cofactor involved in the function of two enzymes: cytosolic methionine synthase and mitochondrial methylmalonic-CoA mutase. In our previous studies, caffeine (1,3,7-trimethylxanthine), the most popular bioactivator, was shown to reduce yolk protein (vitellogenin) and fertility in a Caenorhabditis elegans model. Based on the previous finding that methionine supplementation increases vitellogenesis in C. elegans , we investigated the role of vitamin B12 in methionine-mediated vitellogenesis during oogenesis in caffeine-ingested animals (CIA)...
December 28, 2023: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/38245797/late-onset-methylmalonic-acidemia-and-homocysteinemia-cblc-disease-systematic-review
#34
REVIEW
Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome. METHODS: A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search...
January 20, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38238728/mitochondria-derived-methylmalonic-acid-aggravates-ischemia-reperfusion-injury-by-activating-reactive-oxygen-species-dependent-ferroptosis
#35
JOURNAL ARTICLE
Junchen Guo, Shanjie Wang, Xin Wan, Xiaoxuan Liu, Zeng Wang, Chenchen Liang, Zhenming Zhang, Ye Wang, Miao Yan, Pengyan Wu, Shaohong Fang, Bo Yu
Ferroptosis is a regulatory cell death process pivotal in myocardial ischemia-reperfusion (I/R) injury. However, the precise mechanism underlying myocardial ferroptosis remains less known. In this study, we investigated the pathophysiological mechanisms of methylmalonic acid (MMA) associated with ferroptosis activation in cardiomyocytes after I/R. We found an increase level of MMA in patients with acute myocardial injury after reperfusion and AC16 cells under hypoxia/reoxygenation (H/R) condition. MMA treatment was found to be associated with excessive oxidative stress in cardiomyocytes, leading to ferroptosis-related myocardial injury...
January 18, 2024: Cell Communication and Signaling: CCS
https://read.qxmd.com/read/38198106/real-world-experience-of-carglumic-acid-for-methylmalonic-and-propionic-acidurias-an-interim-analysis-of-the-multicentre-observational-protect-study
#36
JOURNAL ARTICLE
Sufin Yap, Delphine Lamireau, Francois Feillet, Angeles Ruiz Gomez, James Davison, Trine Tangeraas, Vincenzo Giordano
BACKGROUND AND OBJECTIVE: Methylmalonic aciduria (MMA) and propionic aciduria (PA) are organic acidurias characterised by the accumulation of toxic metabolites and hyperammonaemia related to secondary N-acetylglutamate deficiency. Carglumic acid, a synthetic analogue of N-acetylglutamate, decreases ammonia levels by restoring the functioning of the urea cycle. However, there are limited data available on the long-term safety and effectiveness of carglumic acid. Here, we present an interim analysis of the ongoing, long-term, prospective, observational PROTECT study (NCT04176523), which is investigating the long-term use of carglumic acid in children and adults with MMA and PA...
January 10, 2024: Drugs in R&D
https://read.qxmd.com/read/38194811/intestinal-microbiota-promoted-nionps-induced-liver-fibrosis-via-effecting-serum-metabolism
#37
JOURNAL ARTICLE
Jiarong Tang, Hongjun Zhao, Kun Li, Haodong Zhou, Qingyang Chen, Hui Wang, Sheng Li, Jianguang Xu, Yingbiao Sun, Xuhong Chang
Nickel oxide nanoparticles (NiONPs) are toxic heavy metal compounds that induce liver fibrosis and metabolic disorders. Current research shows that the intestinal microbiota regulates liver metabolism through the gut-liver axis. However, it is unclear whether NiONPs affect the intestinal microbiota and the relationship between microbiota and liver metabolic disorders. Therefore, in this study, we established liver fibrosis model by administering 0.015, 0.06 and 0.24 mg/mL NiONPs through tracheal instillation twice a week for 9 weeks in rats, then we collected serum and fecal sample for whole metabolomics and metagenomic sequencing...
January 8, 2024: Ecotoxicology and Environmental Safety
https://read.qxmd.com/read/38190010/long-term-clinical-outcomes-and-health-related-quality-of-life-in-patients-with-isolated-methylmalonic-acidemia-after-liver-transplantation-experience-from-the-largest-cohort-study-in-china
#38
JOURNAL ARTICLE
Yi-Zhou Jiang, Guang-Peng Zhou, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Zhi-Jun Zhu, Li-Ying Sun
BACKGROUND: Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA. The systematic assessment of health-related quality of life (HRQoL)-targeted MMA children before and after LT is also undetermined. This study aimed to comprehensively assess the long-term impact of LT on MMA, including multiorgan sequelae and HRQoL in children and families...
January 8, 2024: World Journal of Pediatrics: WJP
https://read.qxmd.com/read/38178022/adult-onset-combined-methylmalonic-acidemia-and-hyperhomocysteinemia-cblc-type-with-aortic-dissection-and-acute-kidney-injury-a-case-report
#39
JOURNAL ARTICLE
Qiufa Hao, Bei Jiang, Yuying Zhao, Zhao Hu
BACKGROUND: Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease. It progressively causes neurological, hematologic, renal and other system dysfunction. The clinical manifestations are relatively different due to the onset time of disease. CASE PRESENTATION: This report describes a rare case of a 26 year old man with cblC deficiency who developed life-threatening aortic dissection and acute kidney injury (AKI) and showed neuropsychiatric symptoms with elevated serum homocysteine and methylmalonic aciduria...
January 4, 2024: BMC Nephrology
https://read.qxmd.com/read/38158783/identification-of-novel-mutations-in-the-mmaa-and-mut-genes-among-methylmalonic-aciduria-families
#40
JOURNAL ARTICLE
Mahboobeh Jafari, Fatemeh Karami, Aria Setoodeh, Ali Rahmanifar, Hamideh Bagherian, Mohammad Reza Alaei, Farzaneh Rohani, Sirous Zeinali
BACKGROUND: Methylmalonic aciduria is a rare inherited metabolic disorder with autosomal recessive inheritance pattern. There are still MMA patients without known mutations in the responsible genes. This study aimed to identify mutations in Iranian MMA families using autozygosity mapping and NGS. METHODS: Multiplex PCR was performed on DNAs isolated from 12 unrelated MMA patients and their family members using 19 STR markers flanking MUT, MMAA, and MMAB genes, followed by Sanger sequencing...
February 12, 2023: Iranian Biomedical Journal
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