Galactosemia epidemiology and demographics

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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 quite widespread among different countries of the world with significant demographic differences with race and ethnicity. In spite of that, typical symptoms and clinical signs are manifested in most of the patients.

Epidemiology and Demographics


  • Classic galactosemia affects approximately 1/50,000 live births in the USA. [1]. It is around 1 in 47000 among the White Americans. [2].1% of the North American people are carriers. [3]
  • Incidence in UK is 1 in 70000, in Ireland 1 in 23000. [2]
  • Incidence in the traveller community is notably high as 1 in 480. [2]
  • In western Europe the percentage of galactosemia ranges from 1: 23000 to 1: 44000. [4]


  • The incidence seems to be rather lower among people of African and Asian descent.[3]
  • The disorder is apparently less prevalent among Asians. Galactosemia is seen in all races; however, its variants are classified genetically, being most notable among African–Americans.[5]
  • Symptoms mostly develop in a few days to two weeks after initiating feeding in an apparently normal infant leading often to discharge from the hospital prior to the onset of the illness.
  • The other important clinical finding in these patients is cataract.[6]
  • Cognitive impairment is present in the majority of patients.[7]


  1. Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL (2015). "Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead". JIMD Rep. 15: 79–93. doi:10.1007/8904_2014_302. PMC 4413015. PMID 24718839.
  2. 2.0 2.1 2.2 Suzuki M, West C, Beutler E (2001). "Large-scale molecular screening for galactosemia alleles in a pan-ethnic population". Hum Genet. 109 (2): 210–5. doi:10.1007/s004390100552. PMID 11511927.
  3. 3.0 3.1 Ruiz M, Jover S, Armas M, Duque MR, Santana C, Girós ML; et al. (1999). "Galactosaemia presenting as congenital pseudoafibrinogenaemia". J Inherit Metab Dis. 22 (8): 943–4. doi:10.1023/a:1005660011709. PMID 10604151.
  4. Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA (2002). "Clinical features of galactokinase deficiency: a review of the literature". J Inherit Metab Dis. 25 (8): 629–34. doi:10.1023/a:1022875629436. PMID 12705493.
  5. Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M (2011). "The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran". Iran J Public Health. 40 (4): 99–104. PMC 3481732. PMID 23113108.
  6. Kaye CI, Committee on Genetics. Accurso F, La Franchi S, Lane PA, Hope N; et al. (2006). "Newborn screening fact sheets". Pediatrics. 118 (3): e934–63. doi:10.1542/peds.2006-1783. PMID 16950973.
  7. Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U (2010). "Longitudinal assessment of intellectual achievement in patients with classical galactosemia". Pediatrics. 125 (2): e374–81. doi:10.1542/peds.2008-3325. PMID 20100763.