Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)

In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome ( ERRS), we studied the enzyme activity in cultured skin fibroblasts from thr ee generations of a family with a clear dominant inheritance of ERRS. Enzym e activities were normal while the germline PTEN missense mutation P246L se gregated with ERRS in this family. No PTEN mutations were identified in the original patient with ERRS and LCHAD deficiency. These data suggest that t he previously reported case of LCHAD and ERRS either represents the coincid ental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and ERRS, (C) 1999 Wiley-Liss, Inc.