Compositions and methods for treating kabuki syndrome and related disorders

摘要

A method is provided for treating a Mendelian disorder of the epigenetic machinery (e.g., Kabuki syndrome) in a subject in need thereof. In particular, the method comprises administering to the subject a ketogenic composition in an amount sufficient to produce a physiologically acceptable ketosis in the subject. A method for selecting a subject for treatment of a Mendelian disorder of the epigenetic machinery (e.g., Kabuki syndrome) is also provided. Ketogenic compositions and kits useful for practicing the methods are also provided.