_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase
#2
_____ is due to deficiency of the enzyme porphobilinogen deaminase
#3
_____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase
#4
Porphyria cutanea tarda is characterised by increased _____ in the urine
#5
Which epileptic syndrome has been associated with mutations in genes:
?
_____
#6
The following symbol represents _____zygotic twins on a pedigree chart
#7
Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)
#8
The enzyme _____ is deficient in Tay-Sachs disease
#9
_____ is characterized by a deficiency of the enzyme aldolase B
#10
The enzyme _____ is deficient in metachromatic leukodystrophy
Porphyrias Indian Medical PG Flashcards - Medical Study Cards
Master Porphyrias 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.
Porphyrias Flashcard Deck - 10 Cards
Flashcard 1: _____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase
Answer: Variegate
Flashcard 2: _____ is due to deficiency of the enzyme porphobilinogen deaminase
Answer: Acute intermittent porphyria
Flashcard 3: _____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase
Answer: Erythropoetic
Flashcard 4: Porphyria cutanea tarda is characterised by increased _____ in the urine
Answer: uroporphyrin
Flashcard 5: Which epileptic syndrome has been associated with mutations in genes:
?
_____
Answer: Juvenile myoclonic epilepsy
Flashcard 6: The following symbol represents _____zygotic twins on a pedigree chart
Answer: di
Flashcard 7: Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)
Answer: Pompe
Flashcard 8: The enzyme _____ is deficient in Tay-Sachs disease
Answer: hexosaminidase A
Flashcard 9: _____ is characterized by a deficiency of the enzyme aldolase B
Answer: Hereditary fructose intolerance
Flashcard 10: The enzyme _____ is deficient in metachromatic leukodystrophy
Answer: arylsulfatase A
Keywords: Porphyrias flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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