Hoffman Jodi D, Steiner Robert D, Paradise Lori, Harding Carey O, Ding Li, Strauss Arnold W, Kaplan Paige
Division of Genetics, Tufts-New England Medical Center, Boston, MA 02111, USA.
Mil Med. 2006 Jul;171(7):657-8. doi: 10.7205/milmed.171.7.657.
Very long-chain acyl Co-A dehydrogenase deficiency, an inborn error of lipid metabolism, is commonly thought of as a disease of infancy or early childhood. However, several cases of late-onset very long-chain acyl Co-A dehydrogenase have been reported. This report of two military men who survived basic training before their disease presentation broadens the spectrum of late-onset disease, presents two previously unreported mutations, and demonstrates the fine line between athletic, active lifestyle and severe disease presentation.
