Cataract in patients with congenital deficiency of galactokinase: case report
Authors:
Dana Tomčíková 1; Vladimir Bzdúch 2; Darina Behúlová 3; Anton Gerinec 1
Authors‘ workplace:
Klinika detskej oftalmológie LF UK a DFNsP Bratislava
1; I. detská klinika LF UK a DFNsP Bratislava
2; Oddelenie laboratórnej medicíny DFNsP Bratislava
3
Published in:
Forum Diab 2017; 6(1): 49-51
Category:
Case Report
Overview
Authors present a rare case of 8-month old male with bilateral cataract formation. He was diagnosed with galaktokinase deficiency based on metabolic screening in bilateral congenital cataract. Patient undervent cataract extraction. After galactose restricted diet the patient appeared normal with no signs of developmental delay. There is aphakia and indistinctive horizontal nystagmus caused by delayed diagnosis of cataract.
Key words:
congenital galaktokinase deficiency, bilateral congenital cataract
Received:
1. 1. 2017
Accepted:
13. 2. 2017
Sources
1. Cook JG, Don NA, Mann TP. Hereditary galactokinase deficiency. Arch Dis Child 1971; 46(248): 465–469.
2. Gitzelmann R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediat Res 1967; 1: 14–23.
3. Bosch AM, Bakker HD, van Gennip AH et al. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis 2002; 25(8): 629–634.
4. Asada M, Okano Y, Imamura T et al. Molecular characterization of galactokinase deficiency in Japanese patients. J Hum Genet 1999; 44(6): 377–382.
5. Holton JB, Walter JH, Tyfield LA. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS et al (eds). The Metabolic and Molecular Bases of Inherited Disease. Vol II. 8th ed. McGraw-Hill: New York 2001: 1553–1587. ISBN 978–0079130358.
6. Brivet M, Migayron F, Roger J et al. Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia. J Inherit Metab Dis 1989; 12(Suppl 2): 343–345.
7. Brivet M, Raymond JP, Konopka P et al. Effect of lactation in a mother with galactosemia. J Pediatr 1989; 115(2): 280–282.
8. Prchal JT, Conrad ME, Skalka HW. Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency. Lancet 1978; 1(8054): 12–13.
9. Elkin ZP, Piluek WJ, Fredrick DR. Revisiting secondary capsulotomy for posterior capsule management in pediatric cataract surgery. J AAPOS 2016; 20(6): 506–510. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jaapos.2016.06.011>.
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Diabetology Endocrinology Internal medicineArticle was published in
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