Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)
#2
Deficiency of the enzyme _____ causes phenylketonuria (PKU)
#3
An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome
#4
Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test
#5
The most common variant of G6PD deficiency is _____
#6
Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin
#7
How is the diagnosis of HGPRT deficiency made?_____
#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
Newborn Screening for Genetic Disorders Indian Medical PG Flashcards - Medical Study Cards
Master Newborn Screening for Genetic 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.
Newborn Screening for Genetic Disorders Flashcard Deck - 10 Cards
Flashcard 1: Type _____ Tyrosinemia is also called Neonatal tyrosinemia and is due to deficiency of enzyme 4-hydroxyphenylpyruvate dioxygenase (4-HPPD)
Answer: 3
Flashcard 2: Deficiency of the enzyme _____ causes phenylketonuria (PKU)
Answer: phenylalanine hydroxylase
Flashcard 3: An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome
Answer: tyrosine
Flashcard 4: Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test
Answer: Obermeyer
Flashcard 5: The most common variant of G6PD deficiency is _____
Answer: G6PD B
Flashcard 6: Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin
Answer: phenylalanine
Flashcard 7: How is the diagnosis of HGPRT deficiency made?_____
Answer: measuring enzyme activity in erythrocyte
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: Newborn Screening for Genetic Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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