A 6-month-old child presented with multiple episodes of seizures for past 2.5 months. The child was admitted to the ward. He had frequent episodes of hypoglycemia which precipitated the seizures. O/E, Hepatosplenomegaly Sho stature Thin extremities Doll like facies Lab findings revealed hyperuricemia, lactic acidosis, hyperlipidemias Which enzyme deficiency is responsible for this disorder?
Correct Answer: Glucose-6-phosphatase
Description: This is a case of type I GSD/ Von-gierke disease Autosomal recessive Deficiency of Glucose-6-phosphatase in liver Presents:- Fasting hypoglycemia Lactic acidosis Hypoglycemic seizures Hepatosplenomegaly Lab findings: - Lactic acidosis Increased uric acid levels Hyperlipidemia
Category:
Anatomy
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