The ADI1 and PLEKHA1 are involved in amino acid and derivative metabolism (R-HSA-71291), synthesis of PIPs at the plasma membrane (R-HSA-1660499) and energy metabolism (R-HSA-1430728), and are related to neurometabolic disease (Leigh syndrome; OMIM256000) and neuron developmental disease (congenital hypomyelinating neuropathy; OMIM605253), respectively. The gene discussed is ADI1; the disease is Charcot-Marie-Tooth disease type 4E.