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Book

Galactokinase Deficiency

Praveen Kumar Ramani  1 , Kapil Arya
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Galactokinase Deficiency

Praveen Kumar Ramani et al.
Free Books & Documents

Excerpt

Galactokinase deficiency, aka galactosemia type II, is an inborn error of galactose metabolism. Galactokinase deficiency is rare and more insidious than other galactosemia types since it results in the formation of nuclear cataracts without provoking intolerance symptoms or other systemic symptoms.

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Conflict of interest statement

Disclosure: Praveen Kumar Ramani declares no relevant financial relationships with ineligible companies.

Disclosure: Kapil Arya declares no relevant financial relationships with ineligible companies.

References

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    1. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. - PMC - PubMed
    1. Frey PA. The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose. FASEB J. 1996 Mar;10(4):461-70. - PubMed
    1. Stambolian D. Galactose and cataract. Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. - PubMed
    1. Segal S, Rutman JY, Frimpter GW. Galactokinase deficiency and mental retardation. J Pediatr. 1979 Nov;95(5 Pt 1):750-2. - PubMed

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