Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Incubation of intact fibroblasts from a patients with glutaric aciduria type II with [2-14C]riboflavin showed normal synthesis of flavin mononucleotide and flavin adenine dinucleotide. This is taken as evidence for normal transport of riboflavin into the cells and normal activity of riboflavin kinase (EC 2.7.1.26) and flavin mononucleotide adenylyltransferase (EC 2.7.7.2). The ability of intact fibroblasts to oxidize 1-14C-fatty acids and [6-14C]lysine is impaired in the patient which together with the urinary excretion pattern of organic acids indicates a defective dehydrogenation of fatty acid acyl-CoAs and glutaryl-CoA. However, dehydrogenation of (C6-C10) fatty acid acyl-CoA derivatives and glutaryl-CoA was normal when the dehydrogenases were measured in fibroblast homogenate with artificial electron acceptors. In vivo, these dehydrogenases transfer their electrons to CoQ10 in the main electron transport chain via electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase. Glutaric aciduria type II fibroblasts showed very diminished activity when the glutaryl-CoA dehydrogenase activity was measured without artificial electron acceptor but with intact endogenous electron transport system. As the NADH and succinate oxidation seems normal in glutaric aciduria type II patients, this is strong evidence for a defect in either the electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase.
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PMID:Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. 643 13

Glucoamylases produced by Aspergillus niger grown on wheat brain in solid cultures were purified. Four different forms, GA I, GA I', GA II and GA III, were found having apparent molecular weights of 112,000, 104,000, and 74,000 and 61,000 Da respectively. The enzymes are glycoproteins with a carbohydrate content of 16%, and optimal activity at 60 degrees C and pH 4.4. Activity was strongly inhibited by Hg2+ while Mn2+ and Fe2+ were stimulatory. The Km values for the degradation of starch and maltose were 3.5 and 7.8 mg ml-1, respectively.
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PMID:Purification and characterization of glucoamylase produced by Aspergillus niger in solid state fermentation. 898 1

The adsorption of glucoamylases I and II (GA I and GA II, respectively) from Aspergillus niger on the anion exchanger DEAE-Toyopearl 650 was studied in fixed-bed experiments, and the effect of temperature, flowrate, inlet concentration, bed length, and particle size on the process was characterized. The anion exchanger showed a higher adsorption capacity for the more active isoenzyme GA I in all experimental conditions studied. A mathematical model accounting for external and pore diffusion and nonlinear equilibrium isotherm (for GA I) was used to fit the experimental breakthrough curves, showing very accurate fittings in all of the operating conditions. The values of the pore diffusion coefficient at 15, 20, and 25 degrees C were, respectively, 1.25 x 10(-)(11), 1.46 x 10(-)(11) and 1.83 x 10(-)(11) (for GA I) and 1.82 x 10(-)(11), 2.44 x 10(-)(11) and 2.73 x 10(-)(11) (for GA II) m(2)/s. Bicomponent adsorption experiments showed no significant interference effects between GA I and GA II, and so the mathematical model was again used to fit these experiments, yielding very satisfactory results.
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PMID:Use of a diffusion model for mono- and bicomponent anion-exchange of two isoenzymes of glucoamylase from Aspergillus niger in a fixed bed. 1289 92

Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is discussed, especially those resulting from lesions in the basal ganglia, and the encephalopathic episodes which are often precipitated by infections. The variability of the clinical presentation is stressed. The most serious complications are collections of fluid and blood in the middle fossae, the bleeding resulting from rupture of bridging veins. The prognosis does not seem to be related to the extent of the enzyme deficiency. The diagnosis is confirmed by identifying the abnormal acids in the urine and the deficiency of the enzyme in cultured fibroblasts. The differential diagnosis is reviewed: from other biochemical disorders and from other cerebral lesions. Treatment is by special diet and carnitine supplementation. The dystonia can prove difficult to treat, and surgery may be needed to remove the collections of fluid and blood. Glutaric aciduria type II is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase. The symptoms can be mild or severe. The former may only occur in times of stress, and the latter include congenital anomalies, especially of the kidneys and heart. The pathology of these are discussed. The demonstration of organic acids in the urine and the results of muscle and liver biopsies confirm the diagnosis, and treatment with a special diet and supplementation with carnitine and riboflavine is effective.
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PMID:Glutaric aciduria types I and II. 1636 16

Near-homogeneous forms of glucoamylases I and II, previously purified from an industrial Aspergillus niger preparation, were incubated with D-glucose at a number of temperatures and pH values. Kinetics and equilibria of the formation of alpha,beta-trehalose, kojibiose, nigerose, maltose, isomaltose, panose, and isomaltotriose, which with isomaltotetraose were the only products formed, were determined. There was no difference in the abilities of GA I and GA II to form these products. Activation energies for the formation of maltose and panose were lower than those of the other Oligosaccharides. Relative rates of oligosaccharide production based on glucoamylase hydrolytic activity did not vary significantly between pH 3.5 and 4.5 but were lower at pH 5.5. Maltose was formed much faster than any other product. Equilibrium concentrations at higher dissolved solids concentrations decreased in the order isomaltose, isomaltotriose, kojibiose, nigerose, maltose, alpha, beta-Mrehalose, panose, and isomaltotetraose. They were not appreciably affected by changes in temperature or pH. A kinetic model based on adsorption of D-glucose and the seven di- and trisaccharides by the first three glucoamylase subsites was formulated. Oligosaccharide formation was simulated with the model, using equilibrium data gathered for this article and subsite binding energies and kinetic parameters for oligosaccharide hydrolysis measured earlier. Agreement of simulated and actual oligosaccharide formation data through the course of the reaction was excellent except at very high solid concentrations.
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PMID:Kinetics, equilibria, and modeling of the formation of oligosaccharides from D-glucose with Aspergillus niger glucoamylases I and II. 1858 54