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A Rare Galactosemia Complication: Vitreous Hemorrhage

  • Sahin TakciEmail author
  • Sibel Kadayifcilar
  • Turgay Coskun
  • Sule Yigit
  • Burcu Hismi
Case Report
Part of the JIMD Reports book series (JIMD, volume 5)

Abstract

Galactosemia is a secondary glycosylation disorder characterized by galactose deficiency of glycoproteins and glycolipids. Abnormal glycosylation of coagulation factors and evidence of liver disease are associated with coagulopathy in galactosemic infants. We report a case of a neonate with galactosemia presenting with bilateral vitreous hemorrhage (VH). During the follow-up, hemorrhage in the right eye resolved; however, it persisted in the left eye. Vitrectomy was planned for the left eye. In addition to cataract, VH is another ophthalmic finding in galactosemia with serious sequelae such as amblyopia. Serious complications of coagulopathy in galactosemic infants can be prevented with early diagnosis and prompt treatment. Inclusion of galactosemia in the neonatal screening program offers an opportunity to prevent early severe symptoms.

Keywords

Vitreous Hemorrhage Retinal Hemorrhage Classic Galactosemia GALT Activity Ophthalmic Complication 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

GALE

UDP-galactose 4’epimerase

GALK

Galactokinase

GALT

Galactose 1-phosphate uridyltransferase

VH

Vitreous hemorrhage

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Sahin Takci
    • 1
    Email author
  • Sibel Kadayifcilar
    • 2
  • Turgay Coskun
    • 3
  • Sule Yigit
    • 1
  • Burcu Hismi
    • 4
  1. 1.Neonatology UnitHacettepe University Ihsan Dogramaci Children’s HospitalAnkaraTurkey
  2. 2.Department of OphthalmologyHacettepe University Faculty of MedicineAnkaraTurkey
  3. 3.Pediatric MetabolismHacettepe University Ihsan Dogramaci Children’s HospitalAnkaraTurkey
  4. 4.Department of Pediatric MetabolismHacettepe University Ihsan Dogramaci Children’s HospitalAnkaraTurkey

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