Summary of Homocystinuria
Flashcards on Homocystinuria
Homocystinuria is an amino acid metabolism disorder which presents with (upward and out/downward and in) lens subluxation.
Questions on Homocystinuria
A 17-year-old boy comes to the office because of chest pain. His mother states that the patient attends a special education program due to intellectual disability. The patient is 187.96 cm (6 ft 2 in) tall and weighs 67.1-kg (148.0-lb). Physical examination shows a slouching posture and blurry vision. An ECG shows ST changes on leads V1-V4. Which of the following proteins or enzymes is mostly likely defective, causing this patient's symptoms?