Galactosemia causes

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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]


Galactosemia is an autosomal recessive disorder which is caused by dysfunction of the enzymes] involved in the Leloir pathway of galactose metabolism.


Galactosemia is inherited in an autosomal recessive manner when one faulty gene is acquired from each of the carrier parents. The mutations responsible are as follows [1]:

Type I/ Classical galactosemia

Impaired functioning of the GALT gene, leading to absence of the galactose-1-phosphate uridyl transferase enzyme [2].

Duarte variant

GALT gene dysfunction causes reduction of enzyme activity to 50 % [2]

Type II galactosemia

Abnormality in the GALK1 gene [3]

Type III galactosemia

Variation in the activity of the GALE gene [4]

Type IV galactosemia

Biallelic mutations in the GALM gene [5]


  1. Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT (2018). "Hereditary galactosemia". Metabolism. 83: 188–196. doi:10.1016/j.metabol.2018.01.025. PMID 29409891.
  2. 2.0 2.1 Elsas LJ, Lai K (1998). "The molecular biology of galactosemia". Genet Med. 1 (1): 40–8. doi:10.1097/00125817-199811000-00009. PMID 11261429.
  3. "StatPearls". 2022. PMID 32809518 Check |pmid= value (help).
  4. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". PMID 21290786.
  5. Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G; et al. (2019). "The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants". Mol Genet Metab. 126 (4): 362–367. doi:10.1016/j.ymgme.2019.01.018. PMID 30910422.

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