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
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
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 +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
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
Animal models of methylmalonic acidemia: insights and challenges
Orphanet Journal of Rare DiseasesMethylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan +5 more
doaj +2 more sources
Children, 2021 Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome.
Alessia Marcellino +11 more
doaj +1 more source
The emerging role of dysregulated propionate metabolism and methylmalonic acid in metabolic disease, aging, and cancer. [PDF]
Cell MetabShafer M, Low V, Li Z, Blenis J.
europepmc +2 more sources