2-Methylacetoacetyl-CoA is an intermediate in the metabolism of isoleucine. It was first synthesized n 1983. There is an extremely rare metabolic disorder, which involves humans who can't produce the enzyme that metabolizes the chemical into isoleucine; an emergency infusion of electrolytes and long-term a low-protein diet resolves the symptoms. This condition is similar to Phenylketonuria.
See also 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
References