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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.
By Dr Ananya Mandal, MD. Galactosemia is a rare genetic disorder that causes an inability to digest galactose, which is a breakdown product of lactose. Lactose is one of the main carbohydrates in milk.ne of the enzymes involved is galactose-1-phosphate uridyl transferase (GALT) and in galactosemia, this enzyme is either defective or missing. When this happens, an infant is unable to convert the galactose into glucose which causes galactose to accumulate in the blood.