An inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats.

An inherited disorder that prevents the body from using certain fats for energy, particularly during periods without food (fasting) or when sick. Carnitine is a critical chemical to help the body maintain normal energy levels especially in skeletal or heart muscle.

An inherited disorder that prevents the body from using certain fats for energy, particularly during periods without food (fasting) or when sick. This can lead to a build up of ammonia which is toxic to the brain and liver.

An inherited disorder that prevents carnitine from normally attaching to long-chain fatty acids that is used to make energy in the mitochondria. Mutations in the CPT1A gene severely reduce or eliminate the activity of this enzyme.

An inherited disorder that prevents carnitine from normally attaching to long-chain fatty acids that is used to make energy in the mitochondria. There are three main types of CPT II deficiency: a severe newborn form, a severe infant form that affects the heart and liver, and a later-onset form that affects muscles.