Inborn errors of metabolism US Medical PG Flashcards - Medical Study Cards
Master Inborn errors of metabolism with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Inborn errors of metabolism Flashcard Deck - 10 Cards
Flashcard 1: Why is screening for phenylketonuria performed 2-3 days after birth? _____
Answer: May be normal at birth due to maternal enzymes
Flashcard 2: When are patients screened for phenylketonuria?_____
Answer: 2-3 days after birth
Flashcard 3: Neonatal abstinence syndrome presents with diarrhea, sweating, irritability, and _____ (respiratory rate)
Answer: tachypnea
Flashcard 4: How soon after birth do symptoms of galactose metabolism disorders present? _____
Answer: When feeding begins (lactose is in both breast milk and routine formula)
Flashcard 5: What ocular finding is classically seen in Tay-Sachs disease?_____
Answer: "Cherry-red" spot on macula
Flashcard 6: Classic galactosemia causes brain damage, which manifests as _____
Answer: intellectual disability
Flashcard 7: Does Tay-Sachs disease present with hepatosplenomegaly? _____
Answer: No
Flashcard 8: Hunter's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate mild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly
+ aggressive behavior
- corneal clouding
XR iduronate sulfatase
Flashcard 9: Hurler's syndrome
Answer:
Extra: accumulation of heparan/dermatan sulfate developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly AR α-L-iduronidase
Flashcard 10: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?
Answer: cardiac, palate, facial defects
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