Tags

Type your tag names separated by a space and hit enter

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

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

División de Genética, Unidad de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jal., México.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

spa

PubMed ID

2103700

Citation

Vaca-Pacheco, G, et al. "[Identification of Inborn Errors of Galactose Metabolism in Patients With Cataracts]." Archivos De Investigacion Medica, vol. 21, no. 2, 1990, pp. 127-32.
Vaca-Pacheco G, Medina C, García-Cruz D, et al. [Identification of inborn errors of galactose metabolism in patients with cataracts]. Arch Invest Med (Mex). 1990;21(2):127-32.
Vaca-Pacheco, G., Medina, C., García-Cruz, D., Sánchez-Corona, J., Chávez-Anaya, E., Jaimes, C., & Hernández-Córdova, A. (1990). [Identification of inborn errors of galactose metabolism in patients with cataracts]. Archivos De Investigacion Medica, 21(2), pp. 127-32.
Vaca-Pacheco G, et al. [Identification of Inborn Errors of Galactose Metabolism in Patients With Cataracts]. Arch Invest Med (Mex). 1990;21(2):127-32. PubMed PMID: 2103700.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Identification of inborn errors of galactose metabolism in patients with cataracts]. AU - Vaca-Pacheco,G, AU - Medina,C, AU - García-Cruz,D, AU - Sánchez-Corona,J, AU - Chávez-Anaya,E, AU - Jaimes,C, AU - Hernández-Córdova,A, PY - 1990/4/1/pubmed PY - 1990/4/1/medline PY - 1990/4/1/entrez SP - 127 EP - 32 JF - Archivos de investigacion medica JO - Arch Invest Med (Mex) VL - 21 IS - 2 N2 - 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. SN - 0066-6769 UR - https://www.unboundmedicine.com/medline/citation/2103700/[Identification_of_inborn_errors_of_galactose_metabolism_in_patients_with_cataracts]_ L2 - http://www.diseaseinfosearch.org/result/1165 DB - PRIME DP - Unbound Medicine ER -