Ethylmalonic-Adipic Aciduria
نویسندگان
چکیده
منابع مشابه
Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs.
Ibipinabant (IBI), a potent cannabinoid-1 receptor (CB1R) antagonist, previously in development for the treatment of obesity, causes skeletal and cardiac myopathy in beagle dogs. This toxicity was characterized by increases in muscle-derived enzyme activity in serum and microscopic striated muscle degeneration and accumulation of lipid droplets in myofibers. Additional changes in serum chemistr...
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The mechanisms underlying ethylmalonic-adipic aciduria were studied in a 5-yr-old girl. Oxidation of radioactive substrates by cultured skin fibroblasts from the proband and asymptomatic family members was also determined and compared to that by normal fibroblasts and that by cells from a patient with glutaric aciduria type II. Feeding medium-chain triglycerides promptly induced vomiting and le...
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this condition is due to deficiency in electron transport flavoprotein or electron transport fluvoprotein dehydrogenase.the clinical presentation is characteristic of fatty acid oxidation disorders. this disorder is poor prognostic and death in infancy is common.the central nervous system involving causes neurodevelopmental delay, hypotonia, and head lag. different type of seizures such as infa...
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BACKGROUND Biobased processes for the production of adipic acid are of great interest to replace the current environmentally detrimental petrochemical production route. No efficient natural producer of adipic acid has yet been identified, but several approaches for pathway engineering have been established. Research has demonstrated that the microbial production of adipic acid is possible, but ...
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Ethylmalonic encephalopathy is a devastating, infantile, autosomal recessive, metabolic disorder caused by defects in the mitochondrial sulfur dioxygenase, ETHE1, and characterized by ethylmalonic and methylsuccinic aciduria, lactic acidemia associated with developmental delay, orthostatic acrocyanosis, recurrent petechiae, chronic diarrhea, and abnormalities on brain MRI. The authors also repo...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1979
ISSN: 0021-9738
DOI: 10.1172/jci109619