Disorders of amino acid metabolism Quiz: Ace Your Exams
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An 11-year-old girl is brought to the emergency room after sudden weakness in her right arm and leg and slurred speech. She has complained of intermittent chest pain during gym class and visual disturbances for the past 2 months. Her parent states that the patient’s performance in school has been poor recently. The family immigrated from Singapore 2 years ago. Her birth and development were unremarkable. Weight at the 50th percentile for her age, while height is at the 85th percentile. Temperature is 37.0°C (98.6°F), pulse is 94/min, respirations are 18/min, and blood pressure is 105/65 mmHg. Physical examination reveals kyphosis and pectus excavatum. Ophthalmic examination reveals bilateral lens luxations. Neurological examination reveals 2/5 power in her right upper and lower limb and positive Babinski sign on the right side. An inborn error of metabolism is suspected as the cause of this patient’s symptoms. Which of the following enzymes is most likely deficient in this patient?
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