Answer -- E. Maple syrup urine disease
AR
leucine and its keto acid cause brain dysfunction
Signs and symptoms-- feeding problems, seizures, coma in 1-2 weeks of age,
Fatal if not treated
alloisoleucine in blood is pathognomonic
newborn screening is available
Back to question
Back to Practice Question and Answer--- Foundation of Practice
AR
leucine and its keto acid cause brain dysfunction
Signs and symptoms-- feeding problems, seizures, coma in 1-2 weeks of age,
Fatal if not treated
alloisoleucine in blood is pathognomonic
newborn screening is available
Back to question
Back to Practice Question and Answer--- Foundation of Practice
NAVIGATION
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QUESTION BANK-- AKP
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