[Identification of inborn errors of galactose metabolism in patients with cataracts].
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.
Vaca-Pacheco
G
G
División de Genética, Unidad de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jal., México.
Medina
C
C
García-Cruz
D
D
Sánchez-Corona
J
J
Chávez-Anaya
E
E
Jaimes
C
C
Hernández-Córdova
A
A
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000151:congenital / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005686:Galactokinase / Q000097:blood / Q000172:deficiency*; D005690:Galactose / Q000378:metabolism*; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D012307:Risk Factors; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000172:deficiency*
D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose
Identificación de errores innatos del metabolismo de la galactosa en pacientes con cataratas.