Maple syrup urine disease (MSUD) type I is due to impaired alpha-Ketoacid de-_____ component of BCKAD
#2
The enzyme _____ is deficient in Krabbe disease
#3
What is the mode of inheritence of congenital erythropoetic porphyria?_____
#4
Fabry s disease is inherited as _____ disorder.
#5
What is the mode of inheritence of Segawa syndrome?_____
#6
Maple syrup urine disease causes increased _____ in the blood, especially those of leucine
#7
_____ is characterized by a deficiency of the enzyme aldolase B
#8
Which epileptic syndrome has been associated with mutations in genes:
?
_____
#9
The following symbol represents _____zygotic twins on a pedigree chart
#10
The enzyme _____ is deficient in metachromatic leukodystrophy
Single Gene Disorders Indian Medical PG Flashcards - Medical Study Cards
Master Single Gene Disorders 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.
Single Gene Disorders Flashcard Deck - 10 Cards
Flashcard 1: Maple syrup urine disease (MSUD) type I is due to impaired alpha-Ketoacid de-_____ component of BCKAD
Answer: carboxylase
Flashcard 2: The enzyme _____ is deficient in Krabbe disease
Answer: galactocerebrosidase
Flashcard 3: What is the mode of inheritence of congenital erythropoetic porphyria?_____
Answer: Autosomal recessive
Flashcard 4: Fabry s disease is inherited as _____ disorder.
Answer: X-linked recessive
Flashcard 5: What is the mode of inheritence of Segawa syndrome?_____
Answer: Autosomal dominant
Flashcard 6: Maple syrup urine disease causes increased _____ in the blood, especially those of leucine
Answer: -ketoacids
Flashcard 7: _____ is characterized by a deficiency of the enzyme aldolase B
Answer: Hereditary fructose intolerance
Flashcard 8: Which epileptic syndrome has been associated with mutations in genes:
?
_____
Answer: Juvenile myoclonic epilepsy
Flashcard 9: The following symbol represents _____zygotic twins on a pedigree chart
Answer: di
Flashcard 10: The enzyme _____ is deficient in metachromatic leukodystrophy
Answer: arylsulfatase A
Keywords: Single Gene Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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