RESUMO
Maple syrup urine disease [MSUD] is a rare inborn error of amino acid metabolism inherited as an autosomal recessive trait secondary to a deficiency of the enzyme branched chain 2 keto deshydrognase complex [BCKAD] The disease is associated with severe and catastrophic illness in the newborn period typically the infants are well at birth and after two or three days of ingestion of milk the babies begin to manifest poor feeding and spitting We report three observations of three families collected in le Centre de Maternity et de Neonatology de Tunis during 15 years The three patients are boys, their parents are relatives and one of the patients had a brother who died in the neonatal period All the patients became day one lethargic hypotonic and presented seizures two of them had perinatal asphyxia In a family the diagnostic of the disease was obtained in the second sibling affected both admitted in our unit The last patient was referred from Libya with the diagnostic of meningitis Illness resulted in death in the three patients Even MSUD is rare it is important to think to the disease in the typical form