Molecular genetics of citrin deficiency and search for the genetic and/or environmental factor(s) concerned with onset of various symptoms

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Major phenotypes of citrin deficiency are cholestatic neonatal hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2). In the present study, we found that the children with citrin deficiency at the silent (apparently healthy) stage were persistently in oxidative stress and had urea cycle dysfunction and hypercholesterolemia. One of the most prominent characteristics of citrin deficiency is the unique food preference ; citrin deficient-subjects like protein-/fat-rich foods and dislike carbohydrate-rich foods. Our present study also indicated that this food preference seems to be closely related to the pathogenesis such as CTLN2-onset and therapy. It is, however, still difficult to clarify the mechanism of hepatocellular carcinoma-onset in citrin deficiency.