WebMalonyl-CoA decarboxylase deficiency - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. This page is currently unavailable. WebShow only secondary classifications Show only lipids which have this functionality but are not primarily assigned to this class. ... Malonylcarnitine (3S)-3-[(2-carboxyacetyl)oxy]-4-(trimethylazaniumyl)butanoate CAR 3:1;O2 C10H17NO6 247.105589 LMFA07070081
ACRN - Overview: Acylcarnitines, Quantitative, Plasma
WebPatients with malonic and methylmalonic aciduria and/or elevated malonylcarnitine are good candidates for this test, as are those with phenotypic features consistent with … Web13 nov. 2008 · Recently, malonylcarnitine (C3DC) was shown to be elevated in the DBS of affected infants with malonic acidemia. Quantitative features were unknown, so that its … new england eatery and pub
Greenwood Genetic Center
WebMalonylcarnitine, C3-DC Optimal Result: 0.02 - 0.12 umol/L. Interpret your laboratory results instantly with us. Get Started Upload your lab reports and get interpretation today. … WebResults: Relative to biotin-sufficient, carnitine-sufficient cells, intracellular acetylcarnitine increased by 90%, propionylcarnitine more than doubled, and 3HIAc increased by >10-fold in biotin-deficient, carnitine-sufficient (BDCS) cells, consistent with a defensive mechanism in which biotin-deficient cells transesterify the acyl-coenzyme A … Web1 nov. 2007 · Metabolic investigations led to a diagnosis of malonyl-CoA decarboxylase deficiency, confirmed by decreased activity in cultured fibroblasts. High doses of … interphase of whitefish blastula