Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

UGAN ATİK S., GÜRSOY S., KOÇKAR T., ÖNAL H., ADAL S. E.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.51, no.4, pp.204-209, 2016 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.5152/turkpediatriars.2016.3759
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.204-209
  • Keywords: Galactose-1-phosphate uridyltransferase deficiency, galactosemia, newborn screening, GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE, CLASSICAL GALACTOSEMIA, MUTATIONS, GENOTYPE
  • Dokuz Eylül University Affiliated: Yes

Abstract

Aim: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world.