ABSTRACT
The genetically determined disorders of fatty acid oxidation represent a recently 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 39) [1, 2]. Myopathic carnitine palmitoyl transferase (CPT II) (Chapter 38) 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. Multiple acyl CoA dehydrogenase deficiency (Chapter 45) was also known since 1976. 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 subsequent years, the rates of discovery of previously unrecognized disorders of fatty acid oxidation was exponential. 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.
