Results 1 to 10 of about 12,610 (204)

Methylmalonic acidemia: Neurodevelopment and neuroimaging [PDF]

Frontiers in Neuroscience, 2023
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Tao Chen, Yian Gao, Shengdong Zhang, Yuanyuan Wang, Chaofan Sui, Linfeng Yang   +5 more
doaj   +5 more sources

Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions [PDF]

Cell & Bioscience
Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme.
Michele Costanzo, Armando Cevenini, Laxmikanth Kollipara, Marianna Caterino, Sabrina Bianco, Francesca Pirozzi, Gianluca Scerra, Massimo D’Agostino, Luigi Michele Pavone, Albert Sickmann, Margherita Ruoppolo   +10 more
doaj   +6 more sources

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature [PDF]

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +3 more sources

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles. [PDF]

Metabolites
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation.
Sidorina A, Catesini G, Sacchetti E, Rizzo C, Dionisi-Vici C.   +4 more
europepmc   +4 more sources

New insights into the pathophysiology of methylmalonic acidemia. [PDF]

J Inherit Metab Dis, 2023
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology.
Head PE, Meier JL, Venditti CP.
europepmc   +4 more sources

Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report [PDF]

Clinical Case Reports, 2023
Key Clinical Message Methylmalonic acidemia (MMA) combined with hyperhomocysteinemia is an autosomal recessive genetic disease which can lead to metabolic acidosis, elevated lactate, and high blood ammonia level. This anesthetic management was mainly how
Yunting Pang, Fanqing Meng, Yaqiu Guo, Feng Zhou   +3 more
doaj   +4 more sources

Animal models of methylmalonic acidemia: insights and challenges [PDF]

Orphanet Journal of Rare Diseases
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan, Min Liu, Yue Ma, Meng Sun, Yue Wang, Hui Zou   +5 more
doaj   +3 more sources

Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method. [PDF]

World J Pediatr
Methylmalonic acidemia (MMA) is a disorder of autosomal recessive inheritance, with an estimated prevalence of 1:50,000. First-tier clinical diagnostic tests often return many false positives [five false positive (FP): one true positive (TP)].
Zhu ZX, Genchev GZ, Wang YM, Ji W, Ren YY, Tian GL, Sriswasdi S, Lu H.   +7 more
europepmc   +4 more sources

Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia. [PDF]

Orphanet J Rare Dis
Methylmalonic acidemia (MMA) is a rare autosomal recessive disorder, that causes multisystem damage by accumulating toxic metabolites. These metabolites, particularly affecting nerve cells, contribute to suboptimal neurodevelopment in MMA patients. While
Ling IC, Niu DM, Yang CF, Lee CY, Liang SB, Chen YJ.   +5 more
europepmc   +4 more sources

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China [PDF]

Human Genomics
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type).
Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu Han   +18 more
doaj   +3 more sources