[Identification of inborn errors of galactose metabolism in patients with cataracts]

Arch Invest Med (Mex). 1990 Apr-Jun;21(2):127-32.
[Article in Spanish]

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.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Cataract / congenital
  • Cataract / enzymology
  • Cataract / etiology*
  • Cataract / genetics
  • Child
  • Child, Preschool
  • Galactokinase / blood
  • Galactokinase / deficiency*
  • Galactose / metabolism*
  • Galactosemias / complications
  • Galactosemias / diagnosis*
  • Galactosemias / epidemiology
  • Galactosemias / genetics
  • Gene Frequency
  • Genetic Carrier Screening
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Middle Aged
  • Risk Factors
  • UTP-Hexose-1-Phosphate Uridylyltransferase / blood
  • UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency*

Substances

  • Galactokinase
  • UTP-Hexose-1-Phosphate Uridylyltransferase
  • Galactose