ABSTRACT
The disease was first reported in 1971 [1] as a disorder of isoleucine metabolism because of the excretion of large amounts of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic acids in the urine and their increase in response to the administration of protein or isoleucine [2, 3]. Since then, more than 30 patients have been reported [4].
