[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency]. / La mutación P28T del gen GK1 como causa de una deficiencia familiar de galactoquinasa.
Arch Soc Esp Oftalmol
; 78(2): 111-4, 2003 Feb.
Article
en Es
| MEDLINE
| ID: mdl-12647253
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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Romaní
/
Galactoquinasa
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
Es
Revista:
Arch Soc Esp Oftalmol
Año:
2003
Tipo del documento:
Article
Pais de publicación:
España