La mutación P28T del gen GK1 como causa de una deficiencia familiar de galactoquinasa

  1. M Girós
  2. MD Bóveda
  3. A Vázquez de la Cruz
  4. P Lázaro
  5. A Gata
  6. A Solar Boga
  7. P Briones
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2003

Volume: 78

Issue: 2

Pages: 111-114

Type: Article

DOI: 10.4321/S0365-66912003000200009 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Archivos de la Sociedad Española de Oftalmologia

Abstract

Objective/Method: To alert about galactokinase deficiency (GK) as a possible cause of infantile cataracts, and even presenile cataracts in heterozygous carriers. Diagnosis by enzyme and galactitol determination would lead to the introduction of a galactose-free diet which completely prevents the damage. Result/Conclusions: We report on a highly consanguineous Spanish family of gypsy ethnia, with three females of different sibships affected by GK deficiency. The deficiency was due to their homozygosis for mutation P28T in gene GK1. P28T mutation in european Romani gypsies, is also present in Spanish gypsies. It is important to bear in mind that GK deficiency may be an important cause of blindness in that endogamous group.

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