Precocious and progressive encephalopathy due to an inborn error of metabolism of branched-chain aminoacids

Abstract

The maple sugar urine disease (MSUD) is an inborn error of metabolism of branched-chain aminoacids, which induce a storage of metabolites: isoleucin, leucin, valin and their alfa-ketoacids, causing a progressive encephalopathy. A new case of MSUD is reported. He started at 5 days of age with a progressive neurological picture that transitory improved with a protein restriction and glucose intravenous infussion. The analvsis showed increaséd transaminases and hyieramoniemia. The diagnosis of MSUD wás confirmed by enzymatic study. The MSUD is transmitted by recessive autosomic inheritance. The exact diagnosis is important for a genetic advise and besides, because the prenatal diagnosis is now available.