[ leucinosis-Study of seven cases]

ABSTRACT

Maple syrup urine disease [MSUD] is an antosomal recessive metabolic disorder caused by decreased activity of this branched chain alpha-ketacid dehydrogenase. Work object is to clear the clinical, therapeutical and evolutive characteristics of this disease, through a retrospective study of seven patients identified over a 12 years period in Kairouan Pediatric department. The mean age of diseasis revelation was 7 days [2 to 12 days]. The consanguinity was found in 5 cases, neurological diseas dominate the clinical manifestations. The DNPH test was positive in five cases. The diagnosis was confirmed by the AAC in blood and OAC in urines. All the 7 new born died in a mean age of 21 days. The light incidence, problems of management and the poor prognosis underline the improtance of antenatal diagnosis