نتایج جستجو برای: methylmalonic acidemia disorder
تعداد نتایج: 598789 فیلتر نتایج به سال:
Methylmalonic acidemia (MMA) is an organic acidemia caused by deficient activity of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). This disorder is associated with lethal metabolic instability and carries a poor prognosis for long-term survival. A murine model of MMA that replicates a severe clinical phenotype was used to examine the efficacy of recombinant adeno-associated virus (rAA...
We developed a radioimmunoassay to quantitate material crossreacting immunochemically with human methylmalonyl-CoA mutase (methylmalonyl-CoA CoA-carbonylmutase, EC 5.4.99.2), and have applied this assay to extracts of fibroblasts from controls and from 32 patients with methylmalonic acidemia due to inherited deficiencies in mutase activity. Four control lines had an average of 237 ng of crossre...
Many inborn errors of metabolism are characterized by an increase in the concentrations of various carboxylic acids in blood and urine. For example, the metabolic disorders propionic acidemia [ 11, methylmalonic aciduria [ 2,3], maple syrup urine disease [4], isovaleric acidemia [ 41 and glutaric aciduria type II [ 5,6] show increased amounts of volatile carboxylic acids in blood or urine. Proc...
We investigated the compartmentation of the catabolism of dodecanedioate (DODA), azelate, and glutarate in perfused rat livers, using a combination of metabolomics and mass isotopomer analyses. Livers were perfused with recirculating or nonrecirculating buffer containing one fully (13)C-labeled dicarboxylate. Information on the peroxisomal versus mitochondrial catabolism was gathered from the l...
BACKGROUND Liver transplantation for inherited metabolic disorders aims to save the patient's life when the disorder is expected to progress to organ failure, and to cure the underlying metabolic defect. METHODS We retrospectively analyzed 146 pediatric liver transplants (28 metabolic; 118 non-metabolic) performed between 1986 and 2000. RESULTS Twenty-eight transplants were performed in 24 ...
We describe a gas-chromatographic procedure for determining methylmalonic acid in serum and urine. The sample is acidified and the compound is extracted from it with diethyl ether, derivatized with N,Obis(trimethylsilyl)trifluoroacetamide, and gas chromatographed. Precision and sensitivity of the method were verified by recovery studies and by comparing the resultswith those foran established p...
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic...
patients with organic acidemia are prone to different infections, which lead to acidosis episodes. some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. in this study, thirty-one patients with organic acidemia were enrolled. for evaluation of hum...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید