Results 11 to 20 of about 3,232 (144)

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   +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

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

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]

Ital J Pediatr
Maggio MC, Castana C, Caserta M, Di Fiore A, Siciliano V, Corsello G.   +5 more
europepmc   +3 more sources

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

JIMD Reports
Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well‐documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12‐
Dalia Said, Aisha Al Shamsi
doaj   +2 more sources

Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report. [PDF]

BMC Pediatr
Cheng Y, Zhang A.
europepmc   +3 more sources

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations [PDF]

BMC Pediatrics
Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu   +5 more
doaj   +2 more sources

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect. [PDF]

Mol Genet Metab Rep
Fernández-Lainez C, Vela-Amieva M, Reyna-Fabián M, Fernández-Hernández L, Guillén-López S, López-Mejía L, Alcántara-Ortigoza MÁ, González-Del Angel A, Carrillo-Nieto RI, Ortega-Valdez E, Rojas-Maruri M, Ridaura-Sanz C.   +11 more
europepmc   +2 more sources

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

World J Pediatr
Zhu ZX, Genchev GZ, Wang YM, Ji W, Ren YY, Tian GL, Sriswasdi S, Lu H.   +7 more
europepmc   +3 more sources