Galactosemia historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]


The first case of galactosemia was reported in 1908. The disease was fully described in 1935 by Mason and Turner followed by elucidation of the gene in 1956. Since then, screening tests for galactosemia have been widely used.

Historical Perspective


  • Galactosemia was first discovered by Von Ruess in 1908 on a breast- fed infant with failure to thrive, hepatosplenomegaly and galactosuria (increased galactose excretion in urine). The galactosuria stopped after elimination of dietary milk products but the infant ultimately succumbed to death. Autopsy showed liver cirrhosis, but the confirmation of the cause was not possible. It has been generally accepted that this was the first report of galactosemia.
  • The first detailed report was given by Friedrich Goppert in 1917. [1]

Landmark events and development strategies

  • The disease was first recognized in detail in 1935 by Mason and Turner. [2]
  • The defective gene (GALT) was found in 1988 after identification of the gene in 1956. [3]
  • In 1963, it was first detected in a newborn using a screening method developed by Guthrie and Paigen. This was the second disorder detected by this method.[1]
  • Increased newborn screening is a significant development for the galactosemic community.


  1. 1.0 1.1 Timson DJ (2016). "The molecular basis of galactosemia - Past, present and future". Gene. 589 (2): 133–41. doi:10.1016/j.gene.2015.06.077. PMID 26143117.
  2. Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). "Sweet and sour: an update on classic galactosemia". J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.
  3. Reichardt JK, Berg P (1988). "Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase". Mol Biol Med. 5 (2): 107–22. PMID 2840550.

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