Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

► Citrin-deficient children and adolescents are considered to be in the silent period. ► Fatigue and low QOL was identified in the silent period using PedsQL Scale. ► Fatigue and low QOL can be explained by the metabolic defects of citrin deficiency. ► The results stress the need for active involvement of parents and medical staffs.