Update on mitochondrial fatty acid oxidation disorders

Excerpt

Inherited deficiencies of mitochondrial fatty acid oxidation (FAO) are of special importance for metabolic physicians as they are nowadays targets of newborn screening in many countries, and many can be efficiently treated with relatively simple interventions or preventive measures. There has been tremendous progress in our understanding of this group of disorders, not at least in the last decade, due to expansion of newborn screening. Nevertheless, there are still many unanswered questions as well as diagnostic and therapeutic challenges. To summarize current knowledge and identify gaps in our understanding, an international symposium was organized in Fulda, Germany, in October 2008. Important conclusions from this symposium are presented in a number of articles collected in this issue of the JIMD. …