[Identification of inborn errors of galactose metabolism in patients with cataracts].
Arch Invest Med (Mex). 1990 Apr-Jun; 21(2):127-32.AI

Abstract

133 patients with congenital or idiopathic cataracts were studied (94 patients had ages between 1 month and 14 years; 10 patients had ages between 16 and 50 years and 29 patients did not have an age registry) along with 18 patients with a clinical diagnosis of classic galactosemia. The activity of galactokinase (GALAK) and that of erythrocyte galactose-1-phosphate uridyl transferase (GALT) was measured. There were no individuals with a total deficiency of GALK or GALT. The cataract patients of ages between 1 monthly and 14 years, 3 (3.19%) and 4 (4.25%) showed GALK and GALT levels in the range corresponding to the respective heterozygotes. As compared with the expected incidence of heterozygotes in the general population (0.2% for GALK and 0.8% for GALT) we found a significant rise of individuals with low levels of enzymes for the metabolism of galactose. The possibility that heterozygote galactosemic states contribute a risk factor in the development of cataracts and its therapeutic implications are discussed.

Authors+Show Affiliations

Vaca-Pacheco G
División de Genética, Unidad de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jal., México.
Medina C
No affiliation info available
García-Cruz D
No affiliation info available
Sánchez-Corona J
No affiliation info available
Chávez-Anaya E
No affiliation info available
Jaimes C
No affiliation info available
Hernández-Córdova A
No affiliation info available

MeSH

AdolescentAdultCataractChildChild, PreschoolGalactokinaseGalactoseGalactosemiasGene FrequencyGenetic Carrier ScreeningHumansIncidenceInfantInfant, NewbornMiddle AgedRisk FactorsUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Comparative Study
Journal Article

Language

spa

PubMed ID

2103700