ABSTRACT
The lactic acidemias constitute a large family of distinct disorders of metabolism. There are enlarging numbers of enzymatic deficiencies, and some disorders are now characterizable on the basis of the mutation in the DNA. This is especially the case in mitochondrial DNA, but mutations are increasingly being detected in nuclear DNA. Some patients have lactic acidemia secondary to another disorder, such as propionic acidemia (Chapter 2). On the other hand, there remain a considerable number of patients with lactic acidemia in whom a molecular explanation of the abnormal metabolism cannot be found, even with the most sophisticated studies available. Elucidating the cause and the most appropriate approach to therapy in a patient with lactic acidemia requires a systematic investigation.
