Galactosaemia an update

While galactosaemia was originally documented over 100 hundred years ago, it still remains poorly understood and recognized. Classical galactosaemia is an inherited disorder of galactose metabolism, whose main dietary source is lactose. In the UK which does not currently screen for Galactosaemia lack of recognition of key symptoms can lead to delays in diagnosis. However it has become clearer that Galactosaemia is not only an acute disease of the neonatal period but affected children potential are prone to a number of chronic problems later in life. This review looks at the current thinking concerning the pathogenesis and complications of galactosaemia and summaries our current management of patients.