Results 41 to 50 of about 2,508,935 (158)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet

JPGN Reports, EarlyView.
ABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sandra Sala‐Lluch, Nerea Mesas‐Vila, Susana Ferrando‐Monleón, Ana Barrés‐Fernández, Cristina Villar‐Vera, José Vicente Arcos‐Machancoses   +5 more
wiley   +1 more source

Effect of vitamin B12 derivatives on urinary excretion of methylmalonic acid in liver diseases [PDF]

, 1970
1. Twenty.one patients with liver diseases were studied for their urinary mehylmalonic acid excretion after a valine load by means of an improved thin layer chromatography. 2.
Ueda, Masatoshi, Taketa, Kazuhisa
core   +1 more source

Advances in the Protective Effects and Mechanisms of β‐Aminoisobutyric Acid in Maintaining Multi‐Organ Homeostasis

Medicine Bulletin, EarlyView.
ABSTRACT β‐Aminoisobutyric acid (BAIBA) is an exercise‐responsive myokine/metabolite released by skeletal muscle and has attracted increasing interest as a potential exercise mimetic and therapeutic candidate in preclinical research. BAIBA acts locally in skeletal muscle and can also reach distal organs through the circulation, contributing to the ...
Hao‐Zhe Wang, Wen‐Bi He, Fei‐Peng Chen, Jiong‐Xing Huang, Lin Zhu, Xiao‐Guang Liu   +5 more
wiley   +1 more source

Serum cobalamin, urinary methylmalonic acid and plasma homocysteine concentrations in healthy and cobalamin-deficient Border Collies [PDF]

, 2011
Beim Border Collie wird ein erblicher Cobalaminmangel vermutet. Die Diagnose beruht auf einer tiefen Cobalamin- und einer erhöhten Homozysteinkonzentration im Blut sowie auf einer erhöhten Methylmalonsäurekonzentration im Urin. Ziele dieser Studie waren (
Lutz, Sabina
core   +2 more sources

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source