Galactokinase Deficiency Follow-up
- Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD more...
Further Outpatient Care
Evaluate patients with galactokinase deficiency on a regular and frequent schedule to assess dietary intake and to perform eye examinations.
Inpatient & Outpatient Medications
Medication is unnecessary.
Dietary indiscretions resulting in small, frequent doses of galactose encourage initial or recurrent cataract formation.
The prognosis is excellent. The disorder has no implications for any organ other than the lens. Problems can be eliminated with proper care.
Affected individuals must learn to master the dietary restrictions required to eliminate galactose ingestion.
Patients should undergo an annual slit-lamp examination to detect cataract formation.
Cuthbert C, Klapper H, Elsas L. Diagnosis of inherited disorders of galactose metabolism. Curr Protoc Hum Genet. 2008 Jan. Chapter 17:Unit 17.5. [Medline].
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, et al. Early cataract formation due to galactokinase deficiency: impact of newborn screening. Arch Med Res. 2011 Oct. 42(7):608-12. [Medline].
Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis. 2011 Apr. 34(2):399-407. [Medline].
The University of Texas Health Science Center at San Antonio. National newborn screening status report. Updated 01/06/13. Available at http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf. Accessed: April 14, 2014.
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, et al. 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. [Medline]. [Full Text].
Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J. A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype. BMC Med Genet. 2009 Mar 24. 10:29. [Medline]. [Full Text].
Park HD, Bang YL, Park KU, Kim JQ, Jeong BH, Kim YS, et al. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. Mol Genet Metab. 2007 Jul. 91(3):234-8. [Medline].
Berry GT. The role of polyols in the pathophysiology of hypergalactosemia. Eur J Pediatr. 1995. 154(7 Suppl 2):S53-64. [Medline].
Beutler E, Matsumoto F, Kuhl W, Krill A, Levy N, Sparkes R, et al. Galactokinase deficiency as a cause of cataracts. N Engl J Med. 1973 Jun 7. 288(23):1203-6. [Medline].
Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2002 Dec. 25(8):629-34. [Medline].
Gitzelmann R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr Res. 1967. 1:14-23.
Hunter M, Heyer E, Austerlitz F. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma(Gypsy) patients across Europe. Pediatr Res. 2002. 51:602-606.
Kerr MM, Logan RW, Cant JS, Hutchison JH. Galactokinase deficiency in a newborn infant. Arch Dis Child. 1971 Dec. 46(250):864-6. [Medline].
Levy NS, Krill AE, Beutler E. Galactokinase deficiency and cataracts. Am J Ophthalmol. 1972 Jul. 74(1):41-8. [Medline].
Pickering WR, Howell RR. Galactokinase deficiency: clinical and biochemical findings in a new kindred. J Pediatr. 1972 Jul. 81(1):50-5. [Medline].
Reich S, Hennerman J, Vetter B. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatr Res. 2002. 51:598-601.
Sangiuolo F, Magnani M, Stambolian D. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004. 23:396.
Thalhammer O, Gitzelmann R, Pantlitschko M. Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics. 1968 Sep. 42(3):441-5. [Medline].