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hi for every body...

i am asking about your appraoch for the newly born who have an index case with MSUD deceased at 4 days post partum due to severe metabolic encephalopathy and with first degree consanguinity between the parents?

what are the appropriate ainvestigation?

do u admit the baby for observation in nicu ? till lab tests are out

what kind of formula do u start empirically

thanks

hadi fakih MD

RHH hospital

lebanon

  • 1 year later...

MRS for isoleucine peak,TMS for elevated branched chain amino acid, specific formula i too don't have experience, input needed regarding specific formula...

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