fatty acid oxidation disorder


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fatty acid oxidation disorder

n. trastorno de oxidación de ácidos grasos, trastorno metabólico heredado de oxidación de ácidos grasos por el cual estos no pueden actuar sobre las grasas para transformarlas en energía.
English-Spanish Medical Dictionary © Farlex 2012
References in periodicals archive ?
Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol 1999;23:204-10.
Biochemical diagnosis of fatty acid oxidation disorders by metabolic analysis of postmortem liver.
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
In addition to TMS, it is also desirable to add 3 more techniques for a complete screening program: 1) Gas chromatography and mass spectrometer for urine organic acid analysis to confirm diagnosis of organic acidemia and certain fatty acid oxidation disorders; 2) An amino acid High Performance Liquid Chromatography (HPLC) to confirm diagnosis of aminoacidopathies; and 3) AutoDELFIA system for the diagnosis of disease that cannot be identified by TMS namely congenital hypothyroidism, biotinidase deficiency, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, etc.
Postmortem recognition of fatty acid oxidation disorders. Pediatr Pathol 1991;11:365-70.
The analysis of plasma free fatty acids (FFA) and their 3-hydroxyfatty acid (3OHFA) analogs is an alternative approach for the diagnosis of fatty acid oxidation disorders [18, 19].
Piper Jaffray analyst Christopher Raymond raised his price target for Ultragenyx Pharmaceutical to $89 from $85 on news that FDA has accepted the company's proposal to submit for approval of UX007 in long-chain fatty acid oxidation disorders, based on existing data.
(14) Although MCT-supplemented diet has been reported to prevent the development of cardiomyopathy and skeletal myopathy in fatty acid oxidation disorders, a recent study in VLCAD knock-out mice showed that long term MCT supplementation resulted in steatohepatitis and a phenotype like the metabolic syndrome, (15) and this could also be true in humans.
Fatty acid oxidation disorders are a group of autosomal recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to break down fatty acids into energy.
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