This novel mutation alters the protein structure of the NTE encoded by PNPLA6. We hypothesized that it would lead to reduced NTE hydrolase activity and cause abnormalities in phospholipid metabolism, resulting in impaired vision, non-developed secondary sexual characteristics, primary amenorrhea, and suspected cerebellar ataxia in the future. The gene discussed is PNPLA6; the disease is aceruloplasminemia.