Guest guest Posted July 8, 2004 Report Share Posted July 8, 2004 i finally have some of hailees labs back that were sent for speciality testing, of course we just saw the genetic dr, and now i have to figure out how to get him to look at them.. Buti was hoping that maybe someone would understand and point us in the right direction. this is the interpretation given for one of her urine metabolic test. Markedly elevated 3 hydroxybutyrate and acetoacetate, along with increased decenedidate, indicate sever ketosis. levels of the dicarboxylic, oxocarboxylic, and hydroxycarboxylic acids can be increased secondary to ketosis. a low ratio of citric to isocitric acids is seen in metabolic acidosis and in distal renal tubular acidosis the characteristic metabolite patters of some organic acidurias can be masked by gross ketosis and this is the result of her acylcarnitine profile acylcarnitine profile shows mild elevatation of the c8 that can indicate a defect of medium chain acyl-coa dehydrogenase (mcad) or (Madd) Theis an elevation of the c8/c2 ration, however this is a low c8 elevation and no other acylcarnitines are elevated to support a defect of the fatty acid oxidation.. Help it doesnt make sense.. and hailee Quote Link to comment Share on other sites More sharing options...
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