Metabolism: clinical and experimental, 47(7), 836-839 (1998-07-17)
Ethylmalonic encephalopathy (EE), an organic aciduria of unknown etiology characterized by developmental delay, hypotonia, and vascular instability associated with lactic acidemia and urinary excretion of ethylmalonic acid (EMA) and methylsuccinic acid (MSA), has been described in 11 patients. To test
The Biochemical journal, 214(2), 641-644 (1983-08-15)
Rats excrete increased ethylmalonate and methylsuccinate when given ethylmalonate in the diet; when given methylsuccinate they excrete methylsuccinate and mesaconate. Tenfold more labelled mesaconate was produced from threo-methyl[2,3-2H2] succinate precursor than from the erythro isomer. Our findings suggest trans-dehydrogenation of
The Journal of clinical investigation, 79(5), 1303-1309 (1987-05-01)
We describe two patients with short-chain acyl-coenzyme A (CoA) dehydrogenase (SCADH) deficiency. Neonate I excreted large amounts of ethylmalonate and methylsuccinate; ethylmalonate excretion increased after a medium-chain triglyceride load. Neonate II died postnatally and excreted ethylmalonate, butyrate, 3-hydroxybutyrate, adipate, and
American journal of medical genetics, 75(3), 292-296 (1998-02-25)
Central nervous system malformations have been reported in a number of inherited enzyme defects. Ethylmalonic encephalopathy, an organic aciduria of unknown pathogenesis, has not been reported previously in association with brain or spinal cord malformations. We report on 2 sibs
Anaerobic degradation processes play an important role in contaminated aquifers. To indicate active biodegradation processes signature metabolites can be used. In this study field samples from a high-resolution multilevel well in a tar oil-contaminated, anoxic aquifer were analyzed for metabolites
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