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Question

I had a neonate 20 days 1800 grams born to 1 st degree consanous marriage brought in state of HYPOGLYCEMIA within 48 hrs baby went into coma and died with routine supportive line urine collected and reports available now shows MAPLE SYRUP URINE DIS (MSUD) WHAT SHOULD BE ADV TO PARENTS FOR NEXT CONCEPTION

Answer

Prenatal diagnosis can be performed by measuring enzyme activity in cultured amniocytes or chorion villus cells, mutation analysis, or by measuring branch-chain amino acid concentrations in amniotic fluid.
 
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