ethyl malonic acid

alpha- carboxybutyric acid ethylmalonic acid 2- ethylpropanedioic acid malonic acid, ethyl- (8CI) 1,1- propanedicarboxylic acid propanedioic acid, ethyl- (9CI) PubMed: Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. PubMed: Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics. PubMed: Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. PubMed: Short-Term Pretreatment of Sub-Inhibitory Concentrations of Gentamycin Inhibits the Swarming Motility of Escherichia Coli by Down-Regulating the Succinate Dehydrogenase Gene. PubMed: Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. PubMed: Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation. PubMed: The role of previously unmeasured organic acids in the pathogenesis of severe malaria. PubMed: A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD). PubMed: Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration. PubMed: Disturbance of energy and redox homeostasis and reduction of Na+,K+-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats. PubMed: Effects of a dietary sweetener on growth performance and health of stressed beef calves and on diet digestibility and plasma and urinary metabolite concentrations of healthy calves. PubMed: Ethylmalonic acid induces permeability transition in isolated brain mitochondria. PubMed: Liquid chromatographic-mass spectrometric method for simultaneous determination of small organic acids potentially contributing to acidosis in severe malaria. PubMed: A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. PubMed: Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex. PubMed: First case report of short-chain acyl-CoA dehydrogenase deficiency in China. PubMed: Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. PubMed: An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. PubMed: Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development. PubMed: A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis. PubMed: Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. PubMed: Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. PubMed: Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. PubMed: Synthesis, structural analysis, and magnetic properties of ethylmalonate-manganese(II) complexes. PubMed: Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. PubMed: Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma. PubMed: Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. PubMed: Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. PubMed: Streamlined pentafluorophenylpropyl column liquid chromatography-tandem quadrupole mass spectrometry and global (13)C-labeled internal standards improve performance for quantitative metabolomics in bacteria. PubMed: Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. PubMed: Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. PubMed: Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. PubMed: Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. PubMed: Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. PubMed: Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. PubMed: Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. PubMed: Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. PubMed: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. PubMed: Short-chain acyl-coenzyme A dehydrogenase deficiency. PubMed: Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. PubMed: [Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]. PubMed: Severe infantile hypotonia with ethylmalonic aciduria: case report. PubMed: The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. PubMed: Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. PubMed: A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. PubMed: Ethylmalonic encephalopathy: clinical and biochemical observations. PubMed: Lessons to learn from rare inborn errors of metabolism. PubMed: Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis. PubMed: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. PubMed: Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. PubMed: Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. PubMed: Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. PubMed: A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. PubMed: Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. PubMed: Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. PubMed: Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. PubMed: Ethylmalonic encephalopathy-report of two cases. PubMed: ETHE1 mutations are specific to ethylmalonic encephalopathy. PubMed: Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. PubMed: Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. PubMed: Recent developments and new applications of tandem mass spectrometry in newborn screening. PubMed: The role of methionine in ethylmalonic encephalopathy with petechiae. PubMed: Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. PubMed: [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. PubMed: Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. PubMed: A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. PubMed: Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. PubMed: Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. PubMed: Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. PubMed: Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats. PubMed: Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. PubMed: Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. PubMed: Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. PubMed: Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. PubMed: ENDOR studies of VO2+: probing protein-metal ion interactions in nephrocalcin. PubMed: Efficient deuterium-carbon REDOR NMR spectroscopy. PubMed: Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen. PubMed: Urinary organic acid screening in children with developmental language delay. PubMed: Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease. PubMed: Adsorption of small hydroxy acids on glass: a pitfall in quantitative urinary organic acid analysis by GC-MS. PubMed: A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. PubMed: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. PubMed: Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. PubMed: [Malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiency]. PubMed: Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. PubMed: Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. PubMed: Central nervous system malformations in ethylmalonic encephalopathy. PubMed: Structural organization of the human short-chain acyl-CoA dehydrogenase gene. PubMed: Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. PubMed: Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. PubMed: Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers. PubMed: Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. PubMed: Indirect ultraviolet detection of biologically relevant organic acids by capillary electrophoresis. PubMed: Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. PubMed: Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. PubMed: Amino acid polymorphism (Gly209Ser) in the ACADS gene. PubMed: Determination of methylmalonic acid by high-performance liquid chromatography. PubMed: A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. PubMed: Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. PubMed: A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. PubMed: Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. PubMed: Eating disorder in a 6-year-old Asian girl with ethyl malonic adipic aciduria. PubMed: [Synthesis and pharmacological activity of ethyl N-acetic and N-malonic esters of heterocyclic derivatives]. PubMed: Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism? PubMed: Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. PubMed: New clinical phenotype of branched-chain acyl-CoA oxidation defect. PubMed: Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines. PubMed: Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria). PubMed: Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy. PubMed: Valproate-induced coma with ketosis and carnitine insufficiency. PubMed: Organic acid and acylcarnitine profiles of glutaric aciduria type I. PubMed: Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation. PubMed: Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. PubMed: Methylmalonic acid in the diagnosis of cobalt deficiency in barley-fed lambs. PubMed: Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. PubMed: Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. PubMed: Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency. PubMed: Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. PubMed: Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II. PubMed: Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. PubMed: The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. PubMed: Model for calcium binding to gamma-carboxyglutamic acid residues of proteins: crystal structure of calcium alpha-ethylmalonate. PubMed: Riboflavin-responsive ethylmalonic-adipic aciduria. PubMed: Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment. PubMed: Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria. PubMed: Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinate. PubMed: The urinary excretion of ethylmalonic acid: what level requires further attention? PubMed: C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. PubMed: Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. PubMed: Metabolism in rats in vivo of RS-2-methylbutyrate and n-butyrate labeled with stable isotopes at various positions. Mechanism of biosynthesis and degradation of ethylmalonyl semialdehyde and ethylmalonic acid. PubMed: Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA. PubMed: Studies on the biosynthesis of 16-membered macrolide antibiotics using carbon-13 nuclear magnetic resonance spectroscopy. PubMed: Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites. PubMed: Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica. PubMed: A simplified and rapid quantitative assay for propionic and methylmalonic acids in urine.