Which disorder is associated with convulsions, cataract and mental retardation?
Correct Answer: Galactosaemia
Description: Inability to metabolize galactose occurs in the galactosemias, which may be caused by inherited defects of galactokinase, uridyl transferase, or 4-epimeraseThe diagnosis of uridyl transferase deficiency should be considered in newborn or young infants with any of the following features: jaundice, hepatomegaly, vomiting, hypoglycemia, seizures, lethargy, irritability, feeding difficulties, poor weight gain or failure to regain bih weight, aminoaciduria, nuclear cataracts, vitreous hemorrhage, hepatic failure, liver cirrhosis, ascites, splenomegaly, or intellectual disability. Symptoms are milder and improve when milk is temporarily withdrawn and replaced by intravenous or lactose-free nutritionRef: Nelson Textbook of Pediatrics; 20th edition; Page no: 726
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now