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
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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 +5 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
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational NeurologyMethylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to
Wei Zhao, Yingli Zhang, Hongliang Zheng
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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 +3 more sources
Serum cobalamin and methylmalonic acid concentrations in juvenile dogs with parvoviral enteritis or other acute enteropathies [PDF]
Journal of Veterinary Internal Medicine, 2023 Background Low serum cobalamin concentrations have been associated with ileal malabsorption in dogs with chronic enteropathy. Increased serum methylmalonic acid (MMA) concentrations indicate cobalamin deficiency on a cellular level.
Michael Hung +4 more
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Physicians' use of plasma methylmalonic acid as a diagnostic tool [PDF]
Journal of Internal Medicine, 2000 Abstract. Hvas A‐M, Vestergaard H, Gerdes LU, Nexø E (Randers Hospital, Randers, and Aarhus University Hospital, Aarhus, Denmark). Physicians’ use of plasma methylmalonic acid as a diagnostic tool. J Intern Med 2000; 247: 311–317.Objectives. To investigate physicians’ reasons for requesting plasma methylmalonic acid and their reactions to an increased ...
A M, Hvas +3 more
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Mechanisms of Microglial NLRP3 Inflammasome Activation by Methylmalonic Acid in Methylmalonic Acidemia [PDF]
Mediators of InflammationShuqi Sun +5 more
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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
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