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

I would discuss with the metabolic specialist and follow his orders.

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.