Maple Syrup Urine Disease (MSUD)

First described by Menkes in 1954, leukinosis (or MSUD, Maple Syrup Urine Disease) is an autosomal recessive inherited metabolic disease (both parents must be carriers and pass the gene to the child).

The classic form, which is the most common, manifests itself in the first week of life with consciousness disorders, refusal to drink and neurological signs. The evolution without treatment is characterised by a rapid aggravation towards a coma and a characteristic odour of the urine: a smell of maple syrup. After emergency treatment, a diet is instituted for life.