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.
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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)