5th February 2024

Introduction

Apart from lipid metabolism disorders affecting plasma lipids, other lipid metabolism disorders affect lipoproteins, sphingolipids and others.

Syndromes affecting lipoproteins include abetalipoproteinemia.

Syndromes affecting sphingolipids include GM1 gangliosidosis, Tay-Sachs disease, Sandhoff disease, Gaucher disease, Niemann-Pick disease, Fabry disease, Batten’s disease, Zellweger syndrome and Refsum disease. There are many rare syndromes secondary to inborn errors of lipid metabolism; however, these are MRCP Part 1 favourites, as they can come up in the answer options!