ABSTRACT
The genetically determined disorders of fatty acid oxidation represent a recent rapidly growing group of inborn errors of metabolism. The field, as we know it today, really dates from the discovery in 1982 of medium-chain acyl CoA dehydrogenase (MCAD) deficiency (Chapter 40) [1,2]. Myopathic carnitine palmitoyl transferase deficiency was known for some time earlier, but considered among myopathies not a forerunner of expansive growth of knowledge, and HMG CoA lyase deficiency (Chapter 46) had been described but considered to be an organic acidemia. The fact that MCAD deficiency turned out to be common, and largely the consequence of a single mutation has contributed to the current recognition of the importance of this group of disorders. In recent years the rates of discovery of previously unrecognized disorders of fatty acid oxidation have been exponential, and the number of individual diseases is well over a dozen. The advent of diagnosis by tandem mass spectrometry and its application to programs of expanded screening of newborns [3] have opened up this entire population to the prevention of death and disability.
