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 +6 more sources
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
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
doaj +6 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
Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain [PDF]
Journal of Biological Chemistry, 2003 Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites. An impairment of energy metabolism plays a key role in the pathophysiology of this disease, resulting in neurodegeneration of the basal ganglia and renal failure.
Kolker, S. +9 more
openaire +7 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 +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 +3 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
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An +23 more
doaj +2 more sources