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
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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.
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Labels
Diabetology Endocrinology Internal medicineArticle was published in
Forum Diabetologicum
2017 Issue 1
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