Homocysteine and methylmalonic acid in Phenylketonuria patients [PDF]
Genetics and Molecular Biology, 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
Giovana Regina Weber Hoss +7 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
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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 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.
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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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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
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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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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
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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
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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. [PDF]
PLoS ONE, 2017 Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL).
Péter Monostori +9 more
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