An infant at 7 months of age presented with history of vomiting and failure to thrive. Patient improved with administration of intravenous glucose and came out of coma within 24 hours. After one month he returned with similar complaints. On evaluation he is found to have raised blood ammonia and No ketones. Also, he has high urinary glutamine, alanine and uracil. Which is the likely enzyme defect is this patient?
An infant at 7 months of age presented with history of vomiting and failure to thrive. Patient improved with administration of intravenous glucose and came out of coma within 24 hours. After one month he returned with similar complaints. On evaluation he is found to have raised blood ammonia and No ketones. Also, he has high urinary glutamine, alanine and uracil. Which is the likely enzyme defect is this patient?
π‘ Explanation
An infant at 7 months of age presented with history of vomiting and failure to thrive. Patient improved with administration of intravenous glucose and came out of coma within 24 hours. After one month he returned with similar complaints. On evaluation he is found to have raised blood ammonia and No ketones. Also, he has high urinary glutamine, alanine and uracil. Which is the likely enzyme defect is this patient?
β Correct Answer: A. Ornithine transcarbamovlase
π€ Share this MCQ
Share Card Preview
π 1080x1080 square card β fills the full width in WhatsApp and Telegram