Galactosemia | we'd make a milk joke, but it's too cheesy

Galactosemia is an autosomal recessive metabolic condition that alters the body's ability to metabolise galactose, which is a type of sugar. This leads to a build up of galactose and some other metabolites, which then build up in the tissues, causing issues with the liver, brain, kidneys, eyes and other organs. It is a fatal condition if not treated.  The mainstay of treatment is eliminating galactose from the diet, and monitoring for complications with a multidisciplinary team.  In this episode, we go through a case, the presenting features, how to describe the condition to a parent/patient, an overview of the pathophysiology, investigations, treatment and complications. We will be focusing on classic galactosemia, although there are other variants as well.  Links and resources: Follow us on Instagram @yourekiddingrightdoctors Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/ Our email is [email protected] Make sure you hit SUBSCRIBE/FOLLOW so you don't miss out on any pearls of wisdom and RATE if you can to help other people find us! (This isn't individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

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