page_title: Galactosemia
section_title: Types
hierarchical_section_title: Galactosemia / Diagnosis / Types
caption_attribution_description: English: A brief description of galactose metabolism
context_page_description: Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.
  Friedrich Goppert, a German physician, 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 for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common in the Irish Traveller population.
context_section_description: Galactose is converted into glucose by the action of three enzymes, known as the Leloir pathway. There are diseases associated with deficiencies of each of these three enzymes:
caption: Normal metabolic pathway for galactose in humans.
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