Galactosemia - What is Galactosemia?

Galactosemia (Galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.

Galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.

Goppert first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.

Its incidence is about 1 per 60,000 births. It is much rarer in Japan and much more common in Italy, specifically the traveler region. Galactosemia is also very common within the Irish Traveller population. This is attributed to consanguinity within a relatively small gene pool.

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