m.jahanshahifard Posted June 21, 2013 Share Posted June 21, 2013 Hi, my friends The first child of one family had organic acidemia. Now the mother is pregnant. what should we do for prevention or diagnosis? regards, Dr. Jahanshahifard Link to comment Share on other sites More sharing options...
vijayashankara Posted June 22, 2013 Share Posted June 22, 2013 I would discuss with the metabolic specialist and follow his orders. Link to comment Share on other sites More sharing options...
drakjaleel Posted September 26, 2013 Share Posted September 26, 2013 Organic Acidemia is a lethal disease ,we have few confirmed cases of OA diagnosed for years when the facility of TMS in our country is available by using dry sample and again cinfirming the disease with enzyme assay. So far no survival or follow up of these infants. Once you have an index case confirmed and that was a mae baby then you can very well plan and counsel the future pregnancy and managed in the postnatal period (avoiding metabolites) in this way we have come out with a good results Challenging the infant after the metabolic screen result. Link to comment Share on other sites More sharing options...
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