MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY

Alternative titles; symbols

• MCKAT DEFICIENCY

Kamijo et al. (1997) concluded that deficiency of mitochondrial medium chain 3-ketoacyl-coenzyme A thiolase was responsible for the disorder of mitochondrial fatty acid beta-oxidation in a Japanese male neonate who died at 13 days of age. The patient presented at 2 days of age with vomiting, dehydration, metabolic acidosis, liver dysfunction, and terminal rhabdomyolysis with myoglobinuria. A systematic study of the catalytic activities of 9 enzymes of the beta-oxidation cycle using the respective optimal substrates revealed deficiency of a single enzyme not previously associated with a metabolic disorder. Immunoprecipitation with antibodies raised against medium chain 3-ketoacyl-CoA thiolase revealed a 60% decrease compared with controls.