Results 1 to 10 of about 2,508,935 (158)

Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain [PDF]

Journal of Biological Chemistry, 2003
Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites. An impairment of energy metabolism plays a key role in the pathophysiology of this disease, resulting in neurodegeneration of the basal ganglia and renal failure.
Kolker, S., Schwab, M.A., Horster, F., Sauer, S., Hinz, A., Wolf, N.I., Mayatepek, E., Hoffmann, G.F., Smeitink, J.A.M., Okun, J.G.   +9 more
openaire   +7 more sources

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway

International Journal of Neonatal Screening, 2023
Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves, Rolf D. Pettersen   +8 more
doaj   +1 more source

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Cell Reports, 2017
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj   +1 more source

Algorithm for the early diagnosis of vitamin B12 deficiency in elderly people

Nutrición Hospitalaria, 2013
Background: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories.
Gonzalo Palacios, Ricardo Sola, Laura Barrios, Klaus Pietrzik, Manuel J. Castillo, Marcela González-Gross   +5 more
doaj   +1 more source

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Orphanet Journal of Rare Diseases, 2021
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han   +23 more
doaj   +1 more source

Oligosaccharides With Defined Glycosidic Bonds Shape Gut Microbial Succession and Metabolism Via Bond‐Specific Microbial Responders

Advanced Science, EarlyView.
Oligosaccharides with defined glycosidic bonds drive divergent gut microbial succession and shape unique metabolic profiles. Absolute time‐series profiling with Bayesian generalized Lotka–Volterra modeling identifies bond‐specific microbial responders, while monoculture validation and metaproteomics reveal linkage‐matched transport and cleavage modules.
Xiaoxuan Lu, Jiaqi Zou, Geng Han, Mengyao Zhao, Ting Luo, Xiangru Feng, Liangliang Zhu, Yijia Chen, Xiaoguo Ji, Jiayang Jin, Liming Zhao   +10 more
wiley   +1 more source

A Coumarin-Based Fluorescent Probe as a Central Nervous System Disease Biomarker

Sensors, 2014
Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully ...
Ann-Chee Yap, Ummi Affah Mahamad, Shen-Yang Lim, Hae-Jo Kim, Yeun-Mun Choo   +4 more
doaj   +1 more source

Relationships among nitrous oxide exposure, neurological injury and biomarkers

British Journal of Clinical Pharmacology, EarlyView.
Aims Recreational nitrous oxide (N2O) misuse is an increasing public health problem associated with functional cobalamin (B12) deficiency and severe neurological complications. Despite growing recognition of its harms, the dose–response relationship and clinical value of biomarkers remain unclear.
Laxna Bhujel, Angela L. Chiew, Bhashita Jagarlamudi, Pramod Chandru, Naren Gunja, Nancy Briggs, Betty S. Chan   +6 more
wiley   +1 more source

Cobalamin and folate status in 6 to 35 months old children presenting with acute diarrhea in Bhaktapur, Nepal.

PLoS ONE, 2014
BackgroundCobalamin and folate are essential micronutrients and are important in DNA and RNA synthesis, cell proliferation, growth, hematopoiesis, and cognitive function.
Manjeswori Ulak, Ram K Chandyo, Ramesh K Adhikari, Pushpa R Sharma, Halvor Sommerfelt, Helga Refsum, Tor A Strand   +6 more
doaj   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source