| Summary points: | This case report describes the medical history of 2 patients with abetalipoproteinemia (ABL) and summarises the range of reported mutations and their associated clinical phenotypes. The authors review the clinical manifestations of ABL, the pathophysiology, the effects of vitamin E deficiency in these patients and the role of supplementation, prognostic factors predicting disease course, as well as long-term treatment and follow-up. |
Abetalipoproteinemia: Two Case Reports and a Literature Review
