Results 1 to 10 of about 2,810 (170)

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   +2 more sources

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 ...
Charles P Venditti, Vladimir Presnyak, Randy Chandler   +2 more
exaly   +3 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   +2 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   +2 more sources

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report [PDF]

BMC Neurology
Background Liver-kidney transplantation in methylmalonic acidemia (MMA) improves metabolic control but does not eliminate neurological risk. Peripheral neuropathy is increasingly recognized in transplanted patients, yet its pathophysiology and ...
Mariapia Griffo, Francesca Magri, Francesca Furlan, Elisabetta Bernardi, Francesca Menni, Francesco Tagliaferri, Sara Testa, Dario Ronchi, Sara Petrillo, Fiorella Piemonte, Delia Gagliardi, Mosè Parisi, Samuel Padelli, Daniele Velardo, Nicola Molitierno, Stefania Corti, Giacomo Pietro Comi   +16 more
doaj   +2 more sources

Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations [PDF]

Orphanet Journal of Rare Diseases
Background To investigate the clinical characteristics, treatment response, and prognosis of patients with methylmalonic acidemia (MMA) and homocysteinemia complicated by cardiovascular manifestations and to raise awareness regarding MMA and ...
Wanqing Zhao, Yanan Zhang, Yalei Pi, Yuqian Li, Huifeng Zhang   +4 more
doaj   +2 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   +2 more sources

Effect of Bite-Sized Teaching Sessions on Mothers’ Care of Their Children with Methylmalonic Acidemia [PDF]

Egyptian Journal of Health Care, 2021
Background: Methylmalonic acidemia (MMA) is a metabolic disease in which proper dietary treatment may benefit pediatric patients' growth and development.
Rehab Hanie Elkazaz, Hoda Wahid Amer, Fatma Mohamed Mohamed   +2 more
doaj   +1 more source

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype [PDF]

Heliyon
Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine.
Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai   +9 more
doaj   +2 more sources

Dandy-Walker malformation in methylmalonic acidemia: a rare case report

BMC Pediatrics, 2021
Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation.
Jingwei Liu, Zhuohang Liu, Haibo Yan, Yumei Li   +3 more
doaj   +1 more source