Results 1 to 10 of about 2,693,074 (200)
Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment [PDF]
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 +4 more
doaj +4 more sources
The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases [PDF]
Frontiers in NutritionBackgroudRoutine metabolic assessments for methylmalonic acidemia (MMA), propionic acidemia (PA), and homocysteinemia involve detecting metabolites in dried blood spots (DBS) and analyzing specific biomarkers in serum and urine.
Yi Liu +8 more
doaj +4 more sources
Mechanisms of Microglial NLRP3 Inflammasome Activation by Methylmalonic Acid in Methylmalonic Acidemia [PDF]
Mediators of InflammationBackground Microglial activation is a critical pathogenic mechanism of neurological damage in methylmalonic acidemia (MMA). The NOD‐like receptor pyrin domain containing 3 (NLRP3) inflammasome is closely associated with neuroinflammatory processes.
Shuqi Sun +5 more
doaj +3 more sources
Methylmalonic acid in aging and disease. [PDF]
Trends Endocrinol MetabMetabolic byproducts have conventionally been disregarded as waste products without functions. In this opinion article, we bring to light the multifaceted role of methylmalonic acid (MMA), a byproduct of the propionate metabolism pathway mostly commonly known as a clinical biomarker of vitamin B12 deficiency.
Tejero J, Lazure F, Gomes AP.
europepmc +4 more sources
Homocysteine and methylmalonic acid in Phenylketonuria patients. [PDF]
Genet Mol Biol, 2023 Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with ...
Hoss GRW +7 more
europepmc +6 more sources
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 +5 more
doaj +1 more source
Frontiers in Pediatrics, 2022 Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases.
Congcong Shi +5 more
doaj +1 more source
BMC Pediatrics, 2021 Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin.
Katarína Brennerová +6 more
doaj +1 more source
Association analysis between circulating methylmalonic acid and cognitive performance: a population-based cross-sectional study. [PDF]
Front NeurolWang C, Guo W, Xue Y, Xu L.
europepmc +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 +3 more
doaj +1 more source