MCQ High yield topic – Galactosemia

It has the following features in pediatric age group:-

  • Galactose 1 phosphate uridyltransferase defeciency
  • Accumulaion¬† of G1P
  • which Effects Kidney, Liver and Brain
  • Jaundice
  • Hepatomegaly
  • Vomiting
  • Hypoglycemia
  • Catarcts
  • Seizures
  • Poor weight gain
  • Mental retardation
  • E coli sepsis
  • Speech disorders
  • Learning disabilities
  • Treatment. No Lactose-¬† No dairy products