Maple Syrup Urine Disease (MSUD) was first described in 1954 by Menkes. Maple Syrup Urine Disease (MSUD) is a hereditary metabolic disease with an autosomal recessive inheritance pattern.
The classic form is the most frequent, appears in the first week of life, with impaired consciousness, refusal to drink and neurological signs. The evolution without treatment progresses to deep coma and a characteristic smell of mapple syrup in the urine. After urgent treatment, dietary treatment must be introduced and followed for life.