Galactosemia

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Xu, C. Galactosemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/3964 (accessed on 25 September 2026).

Xu C. Galactosemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/3964. Accessed September 25, 2026.

Xu, Camila. "Galactosemia" Encyclopedia, https://encyclopedia.pub/entry/3964 (accessed September 25, 2026).

Xu, C. (2020, December 23). Galactosemia. In Encyclopedia. https://encyclopedia.pub/entry/3964

Xu, Camila. "Galactosemia." Encyclopedia. Web. 23 December, 2020.

Galactosemia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/galactosemia

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose.

genetic conditions

References

Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4[updated 2020 Jul 2]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1518/
Berry GT. Galactosemia: when is it a newborn screening emergency? Mol GenetMetab. 2012 May;106(1):7-11. doi: 10.1016/j.ymgme.2012.03.007.Review.
Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006Aug;29(4):516-25.
Fridovich-Keil J, Bean L, He M, Schroer R. Epimerase Deficiency Galactosemia. 2011 Jan 25 [updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK51671/
Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte VariantGalactosemia. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Ardinger HH, PagonRA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK258640/
Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. JInherit Metab Dis. 2011 Apr;34(2):357-66. doi: 10.1007/s10545-010-9221-4.
Karadag N, Zenciroglu A, Eminoglu FT, Dilli D, Karagol BS, Kundak A, Dursun A,Hakan N, Okumus N. Literature review and outcome of classic galactosemiadiagnosed in the neonatal period. Clin Lab. 2013;59(9-10):1139-46. Review.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F,Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE,Keenan J, Lamance K, Fridovich-Keil JL. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan;78(1):89-102.
Timson DJ. The molecular basis of galactosemia - Past, present and future.Gene. 2016 Sep 10;589(2):133-41. doi: 10.1016/j.gene.2015.06.077.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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