Inborn errors of metabolism — Flashcards

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 sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase

Flashcard 9: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase

Flashcard 10: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects