Results 11 to 20 of about 2,508,935 (158)
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
Romanian Journal of Laboratory Medicine, 2018 Introduction: Sitosterolemia, defined as phytosterolemia, is a rare autosomal recessive disease characterized by elevated blood sterol levels. Our aim was to investigate serum plant sterols, methylmalonic acid, vitamin B12, oxidized-LDL and homocysteine ...
Sivrikaya Abdullah +5 more
doaj +3 more sources
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
doaj +3 more sources
Relationship between methylmalonic acid and cobalamin in uremia [PDF]
Kidney International, 2000 Relationship between methylmalonic acid and cobalamin in uremia.To evaluate the requirement for routine supplementation with vitamin B12 and to study the effect of a change from injection to oral B12 supplementation, we examined the relationship between cobalamin and methylmalonic acid in plasma from 67 patients on chronic hemodialysis, all in regular ...
Moelby, Lars +3 more
openaire +4 more sources
Mouse models for methylmalonic aciduria. [PDF]
PLoS ONE, 2012 Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters +5 more
doaj +4 more sources
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 +2 more sources
Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, D S +6 more
core +7 more sources
Methylmalonic acid values in healthy Dutch children
European Journal of Nutrition, 2007 Plasma methylmalonic acid (MMA) is a specific marker for functional cobalamin deficiency. This deficiency can give rise to non-specific but serious symptoms in childhood such as developmental delay, convulsions and failure to thrive and may even lead to irreversible neurological damage.To analyse plasma MMA concentrations in Dutch children and to ...
Leo Kluijtmans +2 more
exaly +5 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