Catarata monolateral como único signo en déficit de galactokinasa

1. Pinar Sueiro, Sergio
2. Martínez Fernández, R.
3. Gibelalde González, Ana
4. Etxebarria, Jaime
5. Martínez Alday, N.

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More publications in: Archivos de la Sociedad Canaria de Oftalmología

Abstract

Clinical case: We report the case of a 6-year-old female patient who underwent a screening for metabolic systemic diseases because of monolateral presentation of a cataract with metabolic aspect. This screening revealed a nearly total deficiency of galactokinase. Discussion: The formation of cataracts can be due to metabolic alterations. In such cases, an adequate dietary and medical treatment can prevent systemic manifestations, and in some cases achieve the regression of cataract formation. Hyperglycemia, hypoglycemia and hypergalactosemia are important non-surgically-treatable metabolic causes of cataract which should be considered when screening for metabolic diseases responsible for cataract formation.

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