Maple syrup disease: a rare entity that we must know. Review of its dietetic management

Maple syrup disease is secondary to a deficiency of deshydrogenase complex of a cetoacid of branched-chain. This disease has a recessive autosomic inheritance, with an incidence of 1/200,000 newborns, without differences between male and female. Due to clinical presentation and biochemical response to tiamin, these patients can be classified in five clinical entities: classic, intermediate, intermittent, positive response to tiamin and deficiency of dihydrolipoyl deshydrogenase (E3). In these patients, an increase of seric branched-chain aminoacids is detected, it could be detected by (chromatography) during neonatal period. Valine, isoleucine, and aloisoleucine are increased in serum, orine, and cephaloraquideum liquid by ionic changed chromatography, chromatography of high resolution or high voltage electrophoresis. Patients have two phases in this disease (acute phase and maintaining phase). Objectives in acute phase are based in three topics: to eliminate toxic metabolites, nutritional support and to get anabolism. Utilization of hemodialysis/peritoneal dialysis/blood exchange is one of the first treatments. Dietetic support is the second treatment, with a minimum energy intake and controlling blood levels of aminoacids. Modified dietetic formulas is a main device to treat these patients.