Results 1 to 10 of about 565,458 (146)

Methylmalonic acidemia in prenatal diagnosis

Clinical and Experimental Obstetrics and Gynecology, 2020
Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
exaly   +4 more sources

Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia [PDF]

Medicine, 2017
Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid ...
Chen, Minguang, Zhuang, Jieqiu, Yang, JianHuan, Wang, Dexuan, Yang, Qing   +4 more
openaire   +3 more sources

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet [PDF]

Frontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu, Lihong Zhang, Qiang Chen, Yajuan Wang, Yahong Peng, Hui Tang   +5 more
doaj   +2 more sources

Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease [PDF]

Frontiers in Medicine, 2022
BackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency.
Qiang Wang, Qi Wang, Yanxia Gao, Chenquan Tang, Zhaoli Gao, Zhao Hu   +5 more
doaj   +2 more sources

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

Italian Journal of Pediatrics
Background Methylmalonic acidemia (MMA) secondary to mutase deficiency, mut0, is an inborn error of metabolism causing complete enzyme defect, allowing a high risk of irreversible complications, secondary to metabolic decompensation, induced by ...
Maria Cristina Maggio, Cinzia Castana, Marina Caserta, Antonella Di Fiore, Vittoria Siciliano, Giovanni Corsello   +5 more
doaj   +2 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   +2 more sources

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age [PDF]

Scientific Reports
Methylmalonic acidemia (MMA) is the most common inborn organic acidemia, presenting multisystemic complications. Uric acid may have neurotoxic or neuroprotective effects due to its antioxidant or pro-inflammatory properties; however, its role in MMA ...
Mengmeng Du, Shengnan Wu, Yongxing Chen, Shuxian Yuan, Shijie Dong, Huizhen Wang, Haiyan Wei, Changlian Zhu   +7 more
doaj   +2 more sources

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study [PDF]

Scientific Reports
Organic acidemias (OADs) are a group of congenital metabolic disorders whose incidence, disease spectrum, and genetic profiles differ greatly across countries. This study aimed to determine the characteristics of OADs in Quanzhou, China.
Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Yanru Chen, Faming Zheng, Weihua Lin   +5 more
doaj   +2 more sources

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics [PDF]

Molecular Medicine
Methylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du, Miaomiao Li, Shengnan Wu, Xue Wu, Yongxing Chen, Changlian Zhu   +5 more
doaj   +2 more sources

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry [PDF]

International Journal of Neonatal Screening
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study
Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng, Yonglan Huang   +15 more
doaj   +2 more sources