Results 11 to 20 of about 12,610 (204)

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   +3 more sources

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia [PDF]

Journal of Medical Case Reports
Background Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular
Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian   +3 more
doaj   +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   +3 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   +4 more sources

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia. [PDF]

JCI Insight
Methylmalonic acidemia (MMA) is a severe metabolic disorder affecting multiple organs because of a distal block in branched-chain amino acid (BCAA) catabolism.
Hemmingsen MG, Zhang GF, Ma Y, Marchuk H, Patel KR, Chen T, Li X, Chapman M, Collias S, Lopez-Terrada DH, Beasley J, Stiles AR, Chandler RJ, Venditti CP, Young SP, Barzi M, Bissig-Choisat B, Krafte D, Newgard CB, Bissig KD.   +19 more
europepmc   +2 more sources

Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment

Frontiers in Neurology, 2022
BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun, Hong Jin, Yu Rong, Wenqi Song, Qiliang Li   +4 more
doaj   +2 more sources

Continuous renal replacement therapy in a neonate with methylmalonic acidemia and severe hyperammonemia: A case report. [PDF]

Medicine (Baltimore)
Background: Methylmalonic acidemia (MMA) is a rare disease that is often misdiagnosed and overlooked. Metabolic acidosis and severe hyperammonemia are severe morbidities of MMA that demand immediate treatment.
Lin B, Huang Y, Yu Y, Xiong X, Yang C.
europepmc   +2 more sources

Methylmalonic Acidemia: A Review of Cases in Jordan. [PDF]

Cureus
Background This study reviews methylmalonic acidemias (MMAs), one of the organic acid disorders, to create a foundation for future studies by establishing a comprehensive database.
Alakil M, Megdadi NA, Alghonemeen L, Alrababah S, Altawarah N, Alqyam S.   +5 more
europepmc   +2 more sources

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria. [PDF]

Nat Commun
Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU).
Baek R, Coughlan K, Jiang L, Liang M, Ci L, Singh H, Zhang H, Kaushal N, Rajlic IL, Van L, Dimen R, Cavedon A, Yin L, Rice L, Frassetto A, Guey L, Finn P, Martini PGV.   +17 more
europepmc   +2 more sources

Methylmalonic Acidemia and Extrapyramidal Disease

Pediatric Neurology Briefs, 1988
Four children, 4-13 yrs old, with methylmalonic acidemia who developed acute dystonia after metabolic decompensation with ketoacidosis are reported from the Department of Pediatrics, University of Pennsylvania School of Medicine, and the Children’s ...
J Gordon Millichap
doaj   +3 more sources