Abetalipoproteinemi otozomal resesif geçisli, hayatin ilk yillarinda büyüme geriligi ve ishal ile seyreden lipoprotein metabolizma bozukluguna bagli bir hastaliktir. Büyüme geriligi ve aralikli ishal yakinmasi ile 13 yasinda, geç tani alan abetalipoproteinemili olgu nadir görülmesi nedeniyle sunulmustur
Abetalipoproteinemia is an autosomal recessive disorder characterized by growth retardation and diarrhea due to lipoprotein metabolism disorser in the first years of life. A case with late diagnosis of abetalipoproteinemia at the age of 13 with complaints of growth retardation and intermittent diarrhea was presented due to its rare occurrence.